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Rare Diseases Resources

A collection of resources on topics of interest to the rare disease community, including rare disease social networks, online medical reference Web sites, rare disease events, and more.

https://rarediseases.info.nih.gov/resources/2/rare-diseases-resources

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Rare Action Network

 Join the Rare Action Network

The Rare Action Network (RAN) is the nation’s leading advocacy network working to improve the lives of the 30 million Americans living with a rare disease at the state level. RAN serves as a broad spectrum of stakeholders ranging from patients, to their families, caregivers, and friends; from researchers to industry; to physicians and academia. While working predominantly at the state level, the network will filter information up to NORD’s national federal policy team to help address issues of national concern.

Why should I join?

Members of the Rare Action Network are part of 30+ million person community working towards improving the lives of patients with rare diseases.  

http://rarediseases.org/advocate/take-action-locally/join-rare-action-network/

Home Page

http://rarediseases.org/

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Zika virus and pregnancy

the Zika virus is probably a top-of-mind concern right now, and with good reason: This mosquito-borne virus is dominating headlines with its scary multi-country advance and potentially devastating consequences for pregnant women and their babies.

 Zika surfaced just over a year ago in South America, and Brazil has been disproportionately affected, with thousands of babies suffering severe birth defects, including brain damage, in utero when their mothers contracted the virus. But it has now spread to more than three dozen countries and territories in the Americas, and has recently landed in the United States (although it’s important to note that these U.S. cases were brought by returning travelers from affected regions). According to the Centers for Disease Control and Prevention (CDC), 168 pregnant women in the US and the District of Columbia have been diagnosed with Zika and another 142 have been identified in the US territories, which includes the US Virgin Islands and Puerto Rico.

Per the CDC, mosquitoes in the continental United States or Hawaii have not spread Zika. However, lab tests have confirmed Zika virus in travelers returning to the United States. These travelers have gotten the virus from mosquito bites and some non-travelers got Zika through sex with a traveler. Cases of local transmission have been confirmed in three US territories: Puerto Rico, the US Virgin Islands, and American Samoa.

The virus is likely to spread further, according to the World Health Organization (WHO), because the mosquito that transmits Zika is in all but two countries of the Americas, and the people in these regions lack immunity to the virus.

If you’re expecting (and frankly, even if you’re not), it’s crucial to arm yourself with information and up-to-date advice. This is what you need to know:

What is Zika virus?

The Zika virus is an insect-borne illness that can be primarily transmitted by infected Aedes mosquitoes, the same kind that carry dengue and yellow fever. The name comes from the Zika Forest in Uganda where monkeys with the virus were first found in 1947.

Why is it dangerous?

For the relatively few people who show signs of a Zika infection, the illness is often very mild. But in pregnant woman, the effects can be devastating, and can include pregnancy loss or a baby born with an abnormally small head and brain—a condition known as microcephaly, says Edward R.B. McCabe, M.D., Ph.D., Senior Vice President and Chief Medical Officer of the March of Dimes. Microcephaly may be associated with developmental delays, mental retardation, and seizures, and in some cases can be fatal.

Until recently, Zika virus had only been associated with significant risk to the fetus—it wasn’t established that the effects were actually caused by it. But now the news has changed and health officials can report a direct link between Zika and microcephaly. Still, there are many unknowns—including how likely it is that an infection in a pregnant woman will be passed on to her fetus; whether some fetuses are infected but don’t develop microcephaly; how often pregnancy loss may occur in expecting women with Zika virus; and whether pregnancy makes women more susceptible to the virus, says MarjorieTreadwell, M.D., director of the Fetal Diagnostic Center at the University of Michigan and a maternal and fetal medicine expert.

To date, there have been no infants born with microcephaly and other poor outcomes linked to locally acquired Zika virus infection during pregnancy in the continental United States. One infant with microcephaly linked to travel-associated Zika virus infection during pregnancy has been reported in Hawaii as well as one with microcephaly born in a hospital in New Jersey to a woman who had previously tested positive for Zika virus infection and had traveled to Central America during pregnancy.

While the Zika virus remains in the blood of an infected person for a few days to a week, according to the CDC, there’s no current evidence to suggest that it poses a risk of birth defects in future pregnancies. And Zika won’t cause infections in a baby that’s conceived after the virus has left the bloodstream.

http://www.parents.com/pregnancy/complications/birth-defects/zika-virus-everything-pregnant-women-should-know/

If you’re pregnant and think you may have been exposed to Zika, see your health care provider right away and get tested. If you get Zika during pregnancy, you can pass it to your baby. Zika infection during pregnancy can cause a serious birth defect called microcephaly and other problems, like miscarriage and stillbirth.

http://www.marchofdimes.org/materials/Zika_virus_and_pregnancy_fact_sheet.pdf?utm_medium=article&utm_campaign=Zika&utm_source=sidebar&utm_content=zika-PDF-factsheet

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Glut-1 My own Daughters condition, also found on this website on different page

Learning About Glut1 Deficiency Syndrome and a variety of seizure types

http://www.epilepsy.com/learn/types-epilepsy-syndromes/glut1-deficiency-syndrome

http://www.birth-defect.org/glut1-deficiency/

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Beare-Stevenson cutis gyrata syndrome

Beare-Stevenson cutis gyrata syndrome is a rare genetic disorder; its incidence is unknown. Fewer than 20 people with this condition have been reported worldwide.

Beare-Stevenson cutis gyrata syndrome is a genetic disorder characterized by skin abnormalities and the premature fusion of certain bones of the skull (craniosynostosis). This early fusion prevents the skull from growing normally and affects the shape of the head and face.

Many of the characteristic facial features of Beare-Stevenson cutis gyrata syndrome result from the premature fusion of the skull bones. The head is unable to grow normally, which leads to a cloverleaf-shaped skull, wide-set and bulging eyes, ear abnormalities, and an underdeveloped upper jaw. Early fusion of the skull bones also affects the growth of the brain, causing delayed development and intellectual disability.

A skin abnormality called cutis gyrata is also characteristic of this disorder. The skin has a furrowed and wrinkled appearance, particularly on the face, near the ears, and on the palms and soles of the feet. Additionally, thick, dark, velvety areas of skin (acanthosis nigricans) are sometimes found on the hands and feet and in the genital region.

Additional signs and symptoms of Beare-Stevenson cutis gyrata syndrome can include a blockage of the nasal passages (choanal atresia), overgrowth of the umbilical stump (tissue that normally falls off shortly after birth, leaving the belly button), and abnormalities of the genitalia and anus. The medical complications associated with this condition are often life-threatening in infancy or early childhood.

This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. All reported cases have resulted from new mutations in the gene, and occurred in people with no history of the disorder in their family.

For a lot more info on this click on link in red

https://ghr.nlm.nih.gov/condition/beare-stevenson-cutis-gyrata-syndrome#definition

https://en.wikipedia.org/wiki/Beare%E2%80%93Stevenson_cutis_gyrata_syndrome

We Have a Family looking for others this is their Facebook Contact Link:

https://www.facebook.com/ela.kucza.7?fref=ufi

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What is Duchenne muscular dystrophy?

Duchenne muscular dystrophy (DMD) is a rapidly progressive form of muscular dystrophy that occurs primarily in boys. It is caused by an alteration (mutation) in a gene, called the DMD gene that can be inherited in families in an X-linked recessive fashion, but it often occurs in people from families without a known family history of the condition. Individuals who have DMD have progressive loss of muscle function and weakness, which begins in the lower limbs. The DMD gene is the second largest gene to date, which encodes the muscle protein, dystrophin. Boys with Duchenne muscular dystrophy do not make the dystrophin protein in their muscles.

Duchenne muscular dystrophy affects approximately 1 in 3500 male births worldwide. Because this is an inherited disorder, risks include a family history of Duchenne muscular dystrophy.

What are the symptoms of Duchenne muscular dystrophy?

The symptoms usually appear before age 6 and may appear as early as infancy. Typically, the first noticeable symptom is delay of motor milestones, including sitting and standing independently. The mean age for walking in boys with Duchenne muscular dystrophy is 18 months. There is progressive muscle weakness of the legs and pelvic muscles, which is associated with a loss of muscle mass (wasting). This muscle weakness causes a waddling gait and difficulty climbing stairs. Muscle weakness also occurs in the arms, neck, and other areas, but not as severely or as early as in the lower half of the body.

Calf muscles initially enlarge and the enlarged muscle tissue is eventually replaced with fat and connective tissue (pseudohypertrophy). Muscle contractures occur in the legs, making the muscles unusable because the muscle fibers shorten and fibrosis occurs in connective tissue. Occasionally, there can be pain in the calves.

Symptoms usually appear in boys aged 1 to 6. There is a steady decline in muscle strength between the ages of 6 and 11 years. By age 10, braces may be required for walking, and by age 12, most boys are confined to a wheelchair. Bones develop abnormally, causing skeletal deformities of the spine and other areas.

Muscular weakness and skeletal deformities frequently contribute to breathing disorders. Cardiomyopathy (enlarged heart) occurs in almost all cases, beginning in the early teens in some, and in all after the age of 18 years. Intellectual impairment may occur, but it is not inevitable and does not worsen as the disorder progresses.

Few individuals with DMD live beyond their 30s. Breathing complications and cardiomyopathy are common causes of death.

How is Duchenne muscular dystrophy diagnosed?

Duchenne muscular dystrophy is diagnosed in several ways. A clinical diagnosis may be made when a boy has progressive symmetrical muscle weakness. The symptoms present before age 5 years, and they often have extremely elevated creatine kinase blood levels (which are described below) . If untreated, the affected boys become wheelchair dependent before age 13 years.

A muscle biopsy (taking a sample of muscle) for dystrophin studies can be done to look for abnormal levels of dystrophin in the muscle. The dystrophin protein can be visualized by staining the muscle sample with a special dye that allows you to see the dystrophin protein. A muscle which has average amounts of dystrophin will appear with the staining technique as though there is caulking around the individual muscles cells and it is holding them together like window panes. A boy with Duchenne, on the other hand, will have an absence of dystrophin and appear to have an absence of the caulking around the muscle cells. Some individuals can be found to have an intermediate amount of the dystrophin protein. Often these boys are classified as having Becker muscular dystrophy.

Genetic testing (looking at the body’s genetic instructions) on a blood sample for changes in the DMD gene can help establish the diagnosis of Duchenne muscular dystrophy without performing a muscle biopsy. Genetic testing is constantly changing, but the methods currently being used look for large changes in the gene (deletion/duplication) and another method, which looks at the letters that spell out the instructions found within the DMD gene (sequencing). Together these two methods can detect the disease causing changes in about 95% of patients. Those individuals who are not found to have a detected change in the DMD gene using this method, and who are diagnosed with DMD by biopsy, still have a change in their gene but it is in areas of the gene that are not examined using these methods. However, the results of genetic testing may not be conclusive of a diagnosis of DMD, and only the muscle biopsy can tell the level of dystrophin protein for sure.

For the remaining individuals, a combination of clinical findings, family history, blood creatine kinase concentration and muscle biopsy with dystrophin studies confirms the diagnosis. Creatine kinase is an enzyme that is present normally in high concentrations in the muscle cells of our body. During the process of muscle degeneration or breakdown, the muscle cells are broken open and their contents find their way to the bloodstream. Therefore elevated levels of creatine kinase can be detected from a blood test and it is a measure of muscle damage. Elevated levels can be the result of multiple reasons including acute muscle injury, or chronic condition such as Duchenne muscular dystrophy.

For more info

https://www.genome.gov/19518854/learning-about-duchenne-muscular-dystrophy/

Causes

DMD is inherited as an X-linked disease. X-linked genetic disorders are conditions caused by an abnormal gene on the X chromosome and manifest mostly in males. Females that have a defective gene present on one of their X chromosomes are carriers for that disorder. Carrier females usually do not display symptoms because females have two X chromosomes and only one carries the defective gene. Males have one X chromosome that is inherited from their mother and if a male inherits an X chromosome that contains a defective gene he will develop the disease.

Female carriers of an X-linked disorder have a 25% chance with each pregnancy to have a carrier daughter like themselves, a 25% chance to have a non-carrier daughter, a 25% chance to have a son affected with the disease and a 25% chance to have an unaffected son.

If a male with an X-linked disorder is able to reproduce, he will pass the defective gene to all of his daughters who will be carriers. A male cannot pass an X-linked gene to his sons because males always pass their Y chromosome instead of their X chromosome to male offspring.

Some females who inherit a single copy of the disease gene for DMD (gene carriers or heterozygotes) may exhibit some of the symptoms associated with the disease such as weakness of certain muscles, especially those of the arms, legs, and back. Carrier females who develop symptoms of DMD are also at risk for developing heart abnormalities, which may present as exercise intolerance or shortness of breath. If left untreated, heart abnormalities can cause life-threatening complications in such affected females.

DMD is caused by mutations of the DMD gene located on the short arm (p) of the X chromosome (Xp21.2). Chromosomes, which are present in the nucleus of human cells, carry the genetic information for each individual. Human body cells normally have 46 chromosomes. Pairs of human chromosomes are numbered from 1 through 22 and the sex chromosomes are designated X and Y. Males have one X and one Y chromosome and females have two X chromosomes. Each chromosome has a short arm designated “p” and a long arm designated “q”. Chromosomes are further sub-divided into many bands that are numbered. For example, “chromosome Xp21.2” refers to band 21.2 on the short arm of the X chromosome. The numbered bands specify the location of the thousands of genes that are present on each chromosome.

The DMD gene regulates (encodes for) the production of dystrophin, a protein that appears to play an essential role in maintaining the integrity of cell membrane in skeletal (voluntary) and cardiac muscle cells. Dystrophin is found attached to the inner side of the membrane that surrounds muscle fibers. Mutation of the DMD gene will result in absence of the dystrophin protein, leading to degeneration of muscle fibers. The body can replace (regenerate) some muscle fibers, but over time more and more muscle fiber is lost. Such degeneration leads to the symptoms and findings associated with DMD. In Becker muscular dystrophy, a related disorder, dystrophin is present, but it is truncated or only present in insufficient levels to properly perform its functions.

Although most boys with DMD inherit the abnormal gene from their mothers, some may develop the diseases as the result of a spontaneous mutation of the dystrophin gene that occurs randomly for unknown reasons (de novo or sporadic cases).

Affected Populations

DMD is the most common childhood onset form of muscular dystrophy and affects males almost exclusively. The prevalence is estimated to be 1 in every 3,500 live male births. Age of onset is usually between 3 and 5 years of age. The muscular dystrophies as a whole are estimated to affect 250,000 individuals in the United States.

Related Disorders

Infantile spasms (also called IS)

Infantile Spasms / West’s Syndrome / Epilepsy

Infantile spasms (also called IS) are also known as West syndrome because it was first described by Dr. William James West, in the 1840s. The spasms consist of a sudden stiffening. Often the arms flung out as the knees are pulled up and the body bends forward (“jackknife seizures”). Less often, the head can be thrown back as the body and legs stiffen in a straight-out position. Movements can also be more subtle and limited to the neck or other body parts. Infants can cry during or after the seizure. Each seizure lasts only a second or two but they usually occur close together in a series. Sometimes the spasms are mistaken for colic, but the cramps of colic do not occur in a series.

Babies with Infantile spasms often seem to stop developing as expected. Or they may lose skills like sitting, rolling over, or babbling. 

Infantile spasms are most common just after waking up and rarely occur during sleep.

Who gets it?

Infantile spasms is considered an age specific epilepsy that typically begin between 3 and 8 months of age. Almost all cases begin by 1 year of age and usually stop by the age of 2 to 4 years. IS is not common – they affect only one baby out of a few thousand. About 2/3 of babies with IS have some known cause for the seizures. A number of conditions may cause changes in the way the brain forms or functions. For example problems with a gene(s) or body metabolism, changes in the brain structure (called a malformation), lack of oxygen to the brain, brain infections or injury before the seizures begin. Others have had no apparent injury and have been developing normally. There is no evidence that family history, the baby’s sex, or factors such as immunizations are related to infantile spasms.

http://www.epilepsy.com/learn/types-epilepsy-syndromes/infantile-spasms-wests-syndrome

Types of Seizures

http://www.epilepsy.com/learn/types-seizures

Triggers of Seizures

http://www.epilepsy.com/learn/triggers-seizures

About Epilepsy: The Basics

http://www.epilepsy.com/learn/about-epilepsy-basics

What is epilepsy

https://www.epilepsy.org.uk/info

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Baby has seizures, but misdiagnosed as Colic or Reflux.

Sep 4, 2008

We took our baby to the pediatrician and a special “Colic Clinic” to determine what was wrong with him for the first 8 weeks of his life. Unfortunately, he never displayed any “episodes” while visiting doctors. So it wasn’t really the fault of our doctors that he was misdiagnosed. We filmed our baby out of desperation and finally got some attention. Before this video received any comments, we had already gone to the emergency room. It was determined that he was having multiple different types of seizures all at once (no signs of “classic seizures”). After an MRI, we received the diagnosis that he has hemimegalencaphaly. It’s a rare malformation of the brain that causes seizures.

Although he didn’t display this intense episode all along, it finally got to this point after 6 or 7 weeks. If your baby “jack-knifes” or rolls his eyes back, please take him/her to a neurologist or the ER. Our doctors asked all along if he turned blue, but he never did. Just because your baby doesn’t turn blue, doesn’t mean he’s not having seizures (if he’s showing these other signs).

Thank you to all the concerned folks who sent us comments. We hope this video will be helpful to others in our situation.

https://www.youtube.com/watch?v=Ac17vTPGbl0

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Vasa Previa

Rarely reported, occurs in 1:2500 births with a fetal mortality rate estimated to be as high as 95 percent if not diagnosed prenatally.

Cause

Vasa previa occurs when fetal blood vessel(s) from the placenta or umbilical cord cross the entrance to the birth canal, beneath the baby. Vasa previa can result in rapid fetal hemorrhage (occurs from the vessels tearing when the cervix dilates or membranes rupture) or lack of oxygen (if the vessels become pinched off as they are compressed between the baby and the walls of the birth canal). The aberrant vessels result from velamentous insertion of the cord, bilobed or succenturiate lobed placenta.

Symptoms

Vasa previa can be asymptomatic but can also present with sudden onset of abnormally heavy or small amounts of painless vaginal bleeding in the second or third trimester of pregnancy. Source of blood should always be investigated to determine whether the blood is maternal or fetal if the baby is not in distress.

Warning Signs

Vasa previa might be present if any of the following conditions exist: low-lying placenta (may be caused by previous miscarriages followed by curreting of the uterus (D&C) or uterine surgeries, which can cause scarring in the uterus), bilobed or succenturiate-lobed placentas, velamentous insertion of the cord, pregnancies resulting from in-vitro fertilization or multiple pregnancies. Vasa previa bleeding is painless. Other obstetrical or birthing bleeding complications are not necessarily painless.

http://vasaprevia.com/Vasa-Previa-Fact-Sheet

rare cond 3 var

Vasa previa is an extremely rare but devastating condition in which fetal umbilical cord blood vessels cross or run in close proximity to the inner cervical os (the internal opening in the cervix separating the uterine cavity from the vagina). These vessels course within the membranes, unsupported by the umbilical cord or placental tissue, and are at risk of rupture if the supporting membranes are damaged. Vasa previa carries a high mortality rate—50percent of undiagnosed cases end in the death of the fetus. Fortunately this condition is rare, occurring in only one out of every 2,000 pregnancies.

The normal umbilical cord begins right off the placenta, and it carries two arteries and one vein directly into the baby’s body. In vasa previa, the origin of the cord is in the membranes near the placenta, so there is an area in the membranes where the blood vessels are not in the cord at all. Even worse, this area of the membranes containing the cord blood vessels is in front of the internal cervical os. Without the protection of the tough, fibrous cord, the blood vessels have little support. When labor begins and the mother’s water breaks, the unsupported vessels in and around the umbilical cord can tear, resulting in the death of the baby from blood loss within two to three minutes unless an emergency. C-section, is performed.

Also known as a Caesarean section, a C-section is when a mother delivers her baby through an incision made in her abdomen and uterus.

C Section

http://www.pregnancycorner.com/giving-birth/c-section.html

If you are having difficulty grasping what occurs in vasa previa, it may be helpful to understand the origin of the condition’s name, which is derived from Latin. Vasa is the plural form of vas, which denotes a vessel (it’s the root of English words like vase), and previa (from which we also get previous) can be broken down into two components—pre, meaning before, and via, meaning way. Vasa previa can therefore be understood to mean roughly, “vessels in the way of the baby.”

For more on this

http://www.pregnancycorner.com/being-pregnant/complications/vasa-previa.html

http://vasapraevia.co.uk/

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Microdeletion Syndrome

17q21.31 microdeletion syndrome is a condition caused by a small deletion of genetic material from chromosome 17. The deletion occurs at a location designated as q21.31. People with 17q21.31 microdeletion syndrome may have developmental delay, intellectual disability, seizures, hypotonia. distinctive facial features, and vision problems. Some affected individuals have heart defects, kidney problems, and skeletal anomalies such as foot deformities. Typically their disposition is described as cheerful, sociable, and cooperative. The exact size of the deletion varies among affected individuals, but it contains at least six genes. This deletion affects one of the two copies of chromosome 17 in each cell. The signs and symptoms of 17q21.31 microdeletion syndrome are probably related to the loss of one or more genes in this region.

Click on the coloured link’s below for more help.

Advocacy and Support Organizations

Health Questions

Recommended Apps

Scientific Literature

Symptoms,

Diagnosis, and Treatment

Clinical Trial Information

2016

The chromosome 17q21.31 microdeletion syndrome has been renamed. The condition is now called the Koolen de Vries syndrome (KdVS; MIM #610443). The syndrome is caused by either the fact that a small part of chromosome 17 is missing (17q21.31 microdeletion) or a defect in a single gene: the KANSL1-gene.

http://17q21.com/en/publications.php

Koolen-de Vries syndrome 17q21.31 Microdeletion syndrome Questionnaire

http://www.designer-illusions.com/KdVS/QuestionnaireKdVS.pdf

Abstract

BACKGROUND:

Oesophageal atresia (OA) and mandibulofacial dysostosis (MFD) are two congenital malformations for which the molecular bases of syndromic forms are being identified at a rapid rate. In particular, the EFTUD2 gene encoding a protein of the spliceosome complex has been found mutated in patients with MFD and microcephaly (MIM610536). Until now, no syndrome featuring both MFD and OA has been clearly delineated.

RESULTS:

We report on 10 cases presenting with MFD, eight of whom had OA, either due to de novo 17q21.31 deletions encompassing EFTUD2 and neighbouring genes or de novo heterozygous EFTUD2 loss-of-function mutations. No EFTUD2 deletions or mutations were found in a series of patients with isolated OA or isolated oculoauriculovertebral spectrum (OAVS).

CONCLUSIONS:

These data exclude a contiguous gene syndrome for the association of MFD and OA, broaden the spectrum of clinical features ascribed to EFTUD2 haploinsufficiency, define a novel syndromic OA entity, and emphasise the necessity of mRNA maturation through the spliceosome complex for global growth and within specific regions of the embryo during development. Importantly, the majority of patients reported here with EFTUD2 lesions were previously diagnosed with Feingold or CHARGE syndromes or presented with OAVS plus OA, highlighting the variability of expression and the wide range of differential diagnoses.

http://www.ncbi.nlm.nih.gov/pubmed/23188108

Clinical Trails Finder

Finding the right clinical trial for 17q21.31 Microdeletion Syndrome can be challenging. However, with Trials-Finder (which uses the Reg4ALL database and privacy controls by Private Access), you can permit researchers to let you know opportunities to consider – all without revealing your identity.

https://www.trialsfinder.org/?ga_id=GA9

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Unique Can Help

With a rare chromosome disorder from UK to around the World

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 What Can Unique Do To Help?

Having a child with a rare chromosome disorder can be a huge shock and can stir up a whole range of emotions and a great desire to learn more about your child’s disorder. Most of us who help run the group have been through these experiences and know how you are feeling. Most parents’ first reaction, quite understandably, is to “find” another, older child with the same disorder as their child. While this might be possible for some, it still does not mean that the two children will develop in the same way. However, just talking to other parents with a child with a rare chromosome disorder can be a great relief and can help to alleviate feelings of isolation and “why me?”

As part of its services, Unique runs telephone (+44 (0) 1883 723356) and email (info@rarechromo.org) helplines for new and existing member families and professionals to find out more information about the group and about specific rare chromosome disorders. We have developed and maintain a comprehensive offline computerised database detailing the lifetime effects of specific rare chromosome disorders among our members. By Spring 2013 over 10,000 families will have joined our membership, representing more than 14,000 individuals with a rare chromosome disorder registered on our database, the vast majority being new cases never reported in published medical journals. New families are joining us daily. If you go to our registered disorders page on this website you will be able to see all the different chromosomal disorders, with their genotypes where known, occurring among our members. The offline database can be used to link families on the basis of specific rare chromosome disorder. Often of more practical benefit, however, is to link families on the basis of problems as they arise, whether these are medical, developmental, behavioural, social, educational and so on. We also maintain close links with other similar groups around the world, thus increasing the “pool” of possible family contacts. Information about a specific rare chromosome disorder can be prepared from the Unique database while not revealing the identity of the families concerned.

http://www.rarechromo.org/html/WhatWeDoToHelp.asp

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Click on the underlined RED writing

Craniosynostosis, or simply synostosis, is the early growing together (or fusion) of two or more bones of the skull. A newborn’s skull is made up of many separate bones that are not yet fused together. Because the brain grows quickly in the first two years of life, it is important that the skull bones remain open. In fact, complete fusion of the bones normally occurs late in the teen years. Synostosis interferes with normal growth of the brain and skull.

What Is Normal Development?

A suture is a hinge of bony edges that are united by a thin layer of soft tissue. During normal development, interdigitations (folds of the membranes) develop between the bones and form a definitive suture. Later, the open cranial and facial sutures close by forming bony bridging.

At birth, the open sutures allow a lot of flexibility in craniofacial molding of bones to allow the newborn to pass through the birth canal. This molding usually normalizes within one to two weeks after birth. Normal craniofacial growth occurs through two processes: bone displacement and bone remodeling.

Shape of the Head

An abnormal head shape (plagiocephaly) can occur as a result of abnormal forces on the skull before or after birth.

This can happen before birth: When the baby descends into the pelvis. 

If the mom has an abnormally shaped uterus If the fetus is in an odd position If the mom is having twins (or triplets, etc.)

After birth, abnormal head shape is most commonly a result of gravity, when the patient lies in one position for long periods of time.

Most of these problems will “fix themselves” within the first few months after birth due to rapid brain growth or with frequent repositioning of the baby.

Molding helmets may be used for those newborns who are not showing improvement in head shape with re-positioning techniques. It is important to distinguish positional plagiocephaly (a non-surgical condition) from lambdoid synostosis and unilateral coronal synostosis, which require surgery to correct the problem. 

For much much more on this click below.

http://www.cincinnatichildrens.org/health/c/craniosynostosis/

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Kyphoscoliosis Syndrome

About Kyphoscoliosis Syndrome

A side-by-side comparison of a woman with good posture and with kyphoscoliosis. Photo Credit undrey/iStock/Getty Images

Kyphoscoliosis, medically termed kyphosis, involves the forward rounding of the upper back. The rounding is typically extreme, occurring at greater than 50 degrees. Curvature of the spine causes a bowing of the back, which leads to a hunchback or slouching posture. Mild kyphosis cases usually involve minor problems; however, severe cases can affect the lungs, nerves and other tissues and organs.

Mechanism and Causes

Kyphosis occurs in the thoracic portion, or the middle aspect, of the spinal column. The thoracic part of the spine consists of 12 vertebrae, all of which have forward rounding due to kyphosis. Spinal deformity can be caused by different factors, such as degenerative disease, developmental problems or trauma. However, the exact cause of development depends on its type. There are three types of kyphosis; postural, Scheuermann’s and congenital.

Postural Kyphosis

Postural kyphosis, the most common type of kyphosis, develops slowly and usually becomes apparent in adolescence. Postural kyphosis is often attributed to slouching. In fact, researchers believe slouching causes stretching of the spinal ligaments, resulting in abnormal formation of the bones of the spine. Postural kyphosis is commonly accompanied by an exaggerated inward curve, or hyperlordosis in the lower aspect of the spine. Hyperlordosis usually forms to compensate for the exaggerated outward curve of the upper spine from kyphosis.

Scheuermann’s Kyphosis

Scheuermann’s kyphosis commonly appears in adolescence, between the ages of 10 and 15, when the bones are still growing. Scheuermann’s kyphosis deforms the vertebrae, making them appear wedge-shaped instead of rectangular-shaped. Unlike postural kyphosis, Scheuermann’s kyphosis causes a more severe deformity of the spine, because it can occur in the lumbar — lower region of the spine — in addition to the thoracic region.

Congenital Kyphosis

A malformation of the spinal column can occur in some infants during fetal development, resulting congenital kyphosis. During congenital kyphosis, the vertebrae fuse together or the bones do not form properly. Congenital kyphosis worsens as the child grows, and in some cases, surgical treatment may be needed at a very young age to create more of a normal spine. Untreated congenital kyphosis may eventually lead to paralysis of the lower body.

Complications

The spinal deformity kyphosis causes can result in a lump or hump on a person’s back, which can worsen and become more prominent over time. Some people may develop back pain from the misalignment of the spine, which can range from mild to severe. In extreme forward rounding cases, the curve may cause the rib cage to press against the lungs, inhibiting the person’s ability to breathe. In rare cases, excessive spinal pressure can cause weakness or paralysis.

http://www.livestrong.com/article/200313-about-kyphoscoliosis-syndrome/

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Maple Syrup Urine Disease

Maple syrup urine disease affects an estimated 1 in 185,000 infants worldwide. The disorder occurs much more frequently in the Old Order Mennonite population, with an estimated incidence of about 1 in 380 newborns.

Maple syrup urine disease is an inherited disorder in which the body is unable to process certain protein building blocks (amino acids) properly. The condition gets its name from the distinctive sweet odor of affected infants’ urine and is also characterized by poor feeding, vomiting, lack of energy (lethargy), and developmental delay. If untreated, maple syrup urine disease can lead to seizures, coma, and death.

Maple syrup urine disease is often classified by its pattern of signs and symptoms. The most common and severe form of the disease is the classic type, which becomes apparent soon after birth. Variant forms of the disorder become apparent later in infancy or childhood and are typically milder, but they still involve developmental delay and other health problems if not treated.

https://ghr.nlm.nih.gov/condition/maple-syrup-urine-disease#

Treatment involved dietary restriction of the amino acids leucine, isoleucine, and valine. This treatment must begin very early to prevent brain damage. Babies with the disease must eat a special formula that does not contain the amino acids leucine, isoleucine, and valine. As the person grows to adulthood, he or she must always watch their diet, avoiding high protein foods such as meat, eggs, and nuts.
If levels of the three amino acids still get too high, patients can be treated with an intravenous (given through a vein) solution that helps the body use up excess leucine, isoleucine, and valine for protein synthesis.
Gene therapy is also a potential future treatment for patients with MSUD. This would involve replacing the mutated gene with a good copy, allowing the patient’s cells to generate a functional BCKD protein complex and break down the excess amino acids.

http://jakehonorsbiology.blogspot.co.uk/p/maple-syrup-urine-disease-msud.html

General Discussion

Maple syrup urine disease (MSUD) is a rare genetic disorder characterized by deficiency of certain enzymes (branched-chain alpha-keto acid dehydrogenase complex) required to breakdown (metabolize) specific amino acids in the body. Because these amino acids are not metabolized, they, along with their various byproducts, abnormally accumulate in the cells and fluids of the body. Such accumulation can cause a variety of symptoms including lethargy, irritability, poor feeding, abnormal movements and a characteristic odor of maple syrup in the earwax (cerumen), sweat and urine of affected individuals. In addition, if untreated various neurological complications including seizures, coma and brain damage may occur. Failure to promptly detect and treat MSUD can lead to life-threatening complications. However, the disorder can be successfully managed through a specialized diet. Even with treatment affected individuals remain at risk for developing episodes of acute illness (metabolic crisis) often triggered by infection, injury, failure to eat (fasting) or psychological stress. During these episodes there is a rapid, sudden spike in amino acid levels necessitating immediate medical intervention.

At least four subtypes of MSUD have been identified in the medical literature. Some researchers include a fifth subtype, although other researchers consider this a separate distinct disorder. The various subtypes of MSUD have different levels of residual enzyme activity, different severity, and different ages of onset. All forms are inherited as autosomal recessive traits.

Lots more on this click below

https://rarediseases.org/rare-diseases/maple-syrup-urine-disease/

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Neuroblastoma

Neuroblastoma in children

Fewer than 100 children in the UK are diagnosed each year with neuroblastoma. Most children who get this cancer are younger than five years old. Neuroblastoma is the second most common solid tumour in childhood, and it makes up 8% of the total number of children’s cancers.

More children than ever are surviving childhood cancer. There are new and better drugs and treatments. But it remains devastating to hear that your child has cancer, and at times it can feel overwhelming. There are many healthcare professionals and support organisations to help you through this difficult time.

Understanding more about the cancer your child has and the treatments that may be used can often help parents to cope. Your child’s specialist will give you more detailed information. If you have any questions it’s important to ask the specialist doctor or nurse who knows your child’s individual situation.

http://www.macmillan.org.uk/cancerinformation/cancertypes/childrenscancers/typesofchildrenscancers/neuroblastoma.aspx

Signs and symptoms of neuroblastoma

The signs and symptoms of neuroblastoma vary widely, depending on the size of the tumor, where it is, how far it has spread, and if the tumor cells secrete hormones.

Many of the signs and symptoms below are more likely to be caused by something other than neuroblastoma. Still, if your child has any of these symptoms, check with your doctor so the cause can be found and treated, if needed.

Signs or symptoms caused by the main tumor

Tumors in the abdomen (belly) or pelvis: One of the most common signs of a neuroblastoma is a large lump or swelling in the child’s abdomen. The child might not want to eat (which can lead to weight loss). If the child is old enough, he or she may complain of feeling full or having belly pain. But the lump itself is usually not painful to the touch.

Sometimes, a tumor in the abdomen or pelvis can affect other parts of the body. For example, tumors that press against or grow into the blood and lymph vessels in the abdomen or pelvis can stop fluids from getting back to the heart. This can sometimes lead to swelling in the legs and, in boys, the scrotum.

In some cases the pressure from a growing tumor can affect the child’s bladder or bowel, which can cause problems urinating or having bowel movements.

Tumors in the chest or neck: Tumors in the neck can often be seen or felt as a hard, painless lump.

If the tumor is in the chest, it might press on the superior vena cava (the large vein in the chest that returns blood from the head and neck to the heart). This can cause swelling in the face, neck, arms, and upper chest (sometimes with a bluish-red skin color). It can also cause headaches, dizziness, and a change in consciousness if it affects the brain. The tumor might also press on the throat or windpipe, which can cause coughing and trouble breathing or swallowing.

Neuroblastomas that press on certain nerves in the chest or neck can sometimes cause other symptoms, such as a drooping eyelid and a small pupil (the black area in the center of the eye). Pressure on other nerves near the spine might affect the child’s ability to feel or move their arms or legs.

Signs or symptoms caused by cancer spread to other parts of the body

About 2 out of 3 neuroblastomas have already spread to the lymph nodes or other parts of the body by the time they are found.

Lymph nodes are bean-sized collections of immune cells found throughout the body. Cancer that has spread to the lymph nodes can cause them to swell. These nodes can sometimes be felt as lumps under the skin, especially in the neck, above the collarbone, under the arm, or in the groin. Enlarged lymph nodes in children are much more likely to be a sign of infection than cancer, but they should be checked by a doctor.

Neuroblastoma often spreads to bones. A child who can talk may complain of bone pain. The pain may be so bad that the child limps or refuses to walk. If it spreads to the bones in the spine, tumors can press on the spinal cord and cause weakness, numbness, or paralysis in the arms or legs. Spread to the bones around the eyes is common and can lead to bruising around the eyes or cause an eyeball to stick out slightly. The cancer can also spread to other bones in the skull, causing bumps under the scalp.

If the cancer spreads to the bone marrow (the inner part of certain bones that makes blood cells), the child may not have enough red blood cells, white blood cells, or blood platelets. These shortages of blood cells can result in tiredness, irritability, weakness, frequent infections, and excess bruising or bleeding from small cuts or scrapes.

Rarely, large tumors can start to break down, leading to a loss of clotting factors in the blood. This can result in a high risk of serious bleeding, which is known as a consumption coagulopathy and can be life threatening.

Click on the underlined RED writing 

A special widespread form of neuroblastoma (known as stage 4S) occurs only during the first few months of life. In this special form, the neuroblastoma has spread to the liver, to the skin, and/or to the bone marrow (in small amounts). Blue or purple bumps that look like small blueberries may be a sign of spread to the skin. The liver can become very large and can be felt as a mass on the right side of the belly. Sometimes it can grow large enough to push up on the lungs, which can make it hard for the child to breathe. Despite the fact that the cancer is already widespread when it is found, stage 4S neuroblastoma is very treatable, and often shrinks or goes away on its own. Almost all children with this form of neuroblastoma can be cured.

READ MORE

http://www.cancer.org/cancer/neuroblastoma/detailedguide/neuroblastoma-signs-and-symptoms

Neuroblastoma UK

Neuroblastoma UK

 Neuroblastoma is a rare aggressive childhood cancer. About 100 children are diagnosed in the UK each year.

NBUK works exclusively for these children in raising funds for British research into the disease, and offering information and support to families affected by neuroblastoma.

https://www.justgiving.com/NeuroblastomaUK

Tourette Syndrome

Tourette Syndrome is one type of Tic Disorder. Tics are involuntary, repetitive movements and vocalizations. They are the defining feature of a group of childhood-onset, neurodevelopmental conditions known collectively as Tic Disorders and individually as Tourette Syndrome, Chronic Tic Disorder (Motor or Vocal Type), and Provisional Tic Disorder. The three Tic Disorders are distinguished by the types of tics present (motor, vocal/ phonic, or both) and by the length of time that the tics have been present.

Individuals with Tourette Syndrome (TS) have had at least two motor tics and at least one vocal/ phonic tic in some combination over the course of more than a year. By contrast, individuals with Chronic Tic Disorder have either motor tics or vocal tics that have been present for more than a year, and individuals with Provisional Tic Disorder have tics that have been present for less than a year.

Motor Tics

Motor tics are movements. Simple motor tics include but are not limited to: eye blinking, facial grimacing, jaw movements, head bobbing/jerking, shoulder shrugging, neck stretching, and arm jerking. Complex motor tics involve multiple muscle groups or combinations of movements and tend to be slower and more purposeful in appearance,(e.g., hopping, twirling, jumping).

 Vocal/Phonic Tics

Vocal (phonic) tics produce a sound. Simple vocal tics include but are not limited to sniffing, throat clearing, grunting, hooting, and shouting. Complex vocal tics are words or phrases that may or may not be recognizable but that consistently occur out of context. In 10-15% of cases, the words may be inappropriate (i.e., swear words, ethnic slurs, or other socially unacceptable words or phrases).

https://www.tourette.org/about-tourette/overview/what-is-tourette/

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Cyclic Vomiting Syndrome

CVS

I have taken bit’s from this page below to give you an idea of this condition lots to read on the link 

General Discussion

Cyclic vomiting syndrome (CVS) is a rare disorder characterized by recurrent, similar episodes of severe nausea and vomiting. An episode may last for a few hours to several days and then is followed by a period of time during which affected individuals are free of severe nausea and vomiting. This alternating pattern of disease and disease-free periods distinguishes cyclic vomiting syndrome from other similar disorders. Also, in cyclic vomiting syndrome, within each sufferer the episodes are similar. The associated nausea and vomiting can be severe enough to be incapacitating (e.g., individuals may be unable to walk or talk and/or be bedridden). Additional symptoms that are often present during an episode including dizziness, paleness of the skin (pallor), lack of energy (lethargy), abdominal pain and headaches. Oftentimes, nausea is the most disturbing symptom, and vomiting is infrequent. In some cases as children grow older, they may outgrow these episodes, although many of these children eventually develop migraines. Cyclic vomiting syndrome may affect children more often than adults. The exact cause of cyclic vomiting syndrome is unknown.

Signs & Symptoms

The hallmark of cyclic vomiting syndrome is recurrent episodes of severe nausea and vomiting. In children, these episodes usually last for several hours to a few days. In adults, episodes tend to occur less frequently, but usually last longer sometimes as long as 10 days. These recurrent, characteristic episodes are extremely similar in each individual, often occurring at the same time of day, with the same associated symptoms, severity, and duration as previous episodes. Episodes often occur at night or first thing in the morning. Affected individuals may only experience episodes several times a year or as frequently as several times a month. On occasion after years of cycling, episodes can “coalesce” together such that there is no symptom-free period.

Causes

Additional factors that may be associated with the development of cyclic vomiting syndrome include dysfunction of the autonomic nervous system. The autonomic nervous system is the portion of the nervous system that controls or regulates certain involuntary body functions including heart rate, blood pressure, sweating, the production and release of certain hormones, and bowel and bladder control. Autonomic disturbances are common during episodes, including fever, tachycardia, high blood pressure and urinary retention (blockage). Vomiting itself is an autonomic disturbance. Autonomic or “functional” disturbances can also occur between episodes, such as reflex sympathetic dystrophy (a chronic pain condition), syncope (fainting), and disorders of gastrointestinal motility. The latter are particular common, and can include gastroesophageal reflux (GERD, explained below), delayed gastric emptying (resulting in bloating during meals), irritable bowel and/or constipation.Additional conditions sometimes seen in individuals with cyclic vomiting syndrome include depression, anxiety, attention deficit hyperactivity disorder (ADHD), seizures, autistic spectrum disorders and learning disabilities.

Related Disorders

 Gastroesophageal reflux (GERD) is a digestive disorder characterized by the passage or flowing back (reflux) of the contents of the stomach or small intestines (duodenum) into the esophagus. The esophagus is the tube that carries food from the mouth to the stomach (esophagus). Symptoms of gastroesophageal reflux may include a sensation of warmth or burning rising up to the neck area (heartburn or pyrosis), swallowing difficulties (dysphagia)

http://rarediseases.org/rare-diseases/cyclic-vomiting-syndrome/

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Williams syndrome

With Video on web link

Heart and Blood vessel Problems

The majority of individuals with Williams syndrome have some type of heart or blood vessel problem. Typically, there is narrowing in the aorta producing supravalvular aortic stenosis (SVAS), or narrowing in the pulmonary arteries. There is a broad range in the degree of narrowing, ranging from trivial to severe (requiring surgical correction of the defect). Since there is an increased risk for development of blood vessel narrowing or high blood pressure over time, periodic monitoring of cardiac status is necessary.

Hypercalcemia Elevated Blood Calcium Levels

Some young children with Williams syndrome have elevations in their blood calcium level. The true frequency and cause of this problem is unknown. When hypercalcemia is present, it can cause extreme irritability or “colic-like” symptoms. Occasionally, dietary or medical treatment is needed. In most cases, the problem resolves on its own during childhood, but lifelong abnormality in calcium or Vitamin D metabolism may exist and should be monitored.

low Birth-weight – Slow Weight Gain

Most children with Williams syndrome have a slightly lower birth-weight than their brothers or sisters. Slow weight gain, especially during the first several years of life, is also a common problem and many children are diagnosed as “failure to thrive”. Adult stature is smaller than average

Feeding Problems 

Many infants and young children have feeding problems. These problems have been linked to low muscle tone, severe gag reflex, poor suck/swallow, tactile defensiveness etc. Feeding difficulties tend to resolve as the children get older.

Irritability (Colic during infancy)

Many infants with Williams syndrome have an extended period of colic or irritability. This typically lasts from 4 to 10 months of age, then resolves.. Abnormal sleep patterns with delayed acquisition of sleeping through the night may be associated with the colic.  Extreme irritability may also be caused by hypercalcemia in some children with WS.

Dental Abnormalities

Slightly small, widely spaced teeth are common in children with Williams syndrome. They also may have a variety of abnormalities of occlusion (bite), tooth shape or appearance. Most of these dental changes are readily amenable to orthodontic correction.

Kidney Abnormalities

There is a slightly increased frequency of problems with kidney structure and/or function.

Hernis

Inguinal (groin) and umbilical hernias are more common in Williams syndrome than in the general population.

Hyperacusis (sensitive Hearing)

Children with Williams syndrome often have more sensitive hearing than other children; certain frequencies or noise levels can be painful and/or startling to the individual. This condition often improves with age.

Musculoskeletal Problems

Young children with Williams syndrome often have low muscle tone and joint laxity. As the children get older, joint stiffness (contractures) may develop. Physical therapy is very helpful in improving muscle tone, strength and joint range of motion.

https://williams-syndrome.org/what-is-williams-syndrome 

Aberrant Subclavian Artery

Click on RED underlined Writing

Aberrant subclavian artery is a rare vascular anomaly that is present from birth. It usually causes no symptoms and is often discovered as an incidental finding (such as through a barium swallow or echocardiogram). 

https://rarediseases.info.nih.gov/diseases/5706/aberrant-subclavian-artery

https://en.wikipedia.org/wiki/Aberrant_subclavian_artery

http://www.science.gov/topicpages/a/aberrant+subclavian+artery.html

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Kabuki Syndrome

Kabuki syndrome is a rare, multisystem disorder characterized by multiple abnormalities including distinctive facial features, growth delays, varying degrees of intellectual disability, skeletal abnormalities, and short stature. A wide variety of additional symptoms affecting multiple different organ systems can potentially occur. The specific symptoms associated with Kabuki syndrome can vary greatly from one person to another. To date, mutation in one of two genes leads to Kabuki syndrome. The first gene is KMT2D (formerly MLL2) and the second gene, which accounts for fewer cases of Kabuki syndrome, is KDM6A. Clinical genetic testing is available for both genes.

Introduction

Kabuki syndrome was first reported in the medical literature in 1981 by Japanese physicians. The disorder was originally called Kabuki-makeup syndrome because the facial features of many affected children resembled the makeup used by actors in kabuki, a form of Japanese theater. The term “makeup” has since been dropped and the preferred term for the disorder is Kabuki syndrome.

http://rarediseases.org/rare-diseases/kabuki-syndrome/

Niikawa-Kuroki Syndrome.

Kabuki Syndrome is a rare type genetic disorder where the affected people have distinctive facial features like the make-up worn by the actors in Japan. People who has this disease show signs of mental and skeletal disabilities. This condition is also called by the medical professionals as Niikawa-Kuroki Syndrome.

With Photo’s

http://syndromespedia.com/kabuki-syndrome.html#.V79BapgrKUk

http://disorders.eyes.arizona.edu/category/alternate-names/niikawa-kuroki-syndrome

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Schizencephaly

Schizencephaly is an uncommon congenital disorder of cerebral cortical development. Although a well-recognized cause of seizures and developmental deficits in children, previous reports describe the range of neurode-velopmental outcome in only 47 patients. We report the clinical and cranial imaging features of 47 children with unilateral open-lip (171, unilateral closed-lip (121, bilateral open-lip (121, and bilateral closed-lip (6) schizencephaly, as defined radiologically. The schizencephalic cleft occurred more often in the anterior than in the posterior neocortex. Children with closed-lip schizencephaly presented with hemiparesis or motor delay whereas patients with open-lip schizencephaly presented with hydrocephalus or seizures. Forty-three patients (91%) had associated cerebral developmental anomalies, most commonly absence of the septum pellucidum (45%) and focal cortical dysplasia (40%). There was a history of seizures in 57% of cases, a third of which were classified as difficult to control. Neurodevelopmental outcome was generally poor, with 51% of patients (24/47) having severe deficits, 32% of patients (15/47) having moderate impairment, and 17% of patients (8/47) having mild or no problems. Patients with closed-lip schizencephaly were more likely to have a mild to moderate outcome than those with open-lip type (78% versus 31%; p < 0.05). Children with unilateral schizencephaly had a mild or moderate outcome more frequently than those with bilateral lesions (62% versus 28%; p < 0.05). Children who had involvement of a single lobe accounted for 88% of those with mild outcomes and 53% of those with moderate outcomes. Unilateral closed-lip schizencephaly was associated with the best neurodevelopmental outcome; in contrast, 11 of 12 children with bilateral open-lip clefts had severe disabilities. Language development was significantly more likely to be normal in those children with unilateral schizencephaly than in those with bilateral clefts (48% versus 6%; p < 0.002). Thus, the presentation and outcome of children with schizencephaly are quite variable but are related to the extent of cortex involved in the schizencephalic defect.

http://www.neurology.org/content/48/5/1427

Schizencephaly: 

Click on the red words for other links

A developmental disorder of the brain characterized by abnormal slits, or clefts, in the cerebral hemispheres. Schizencephaly is a form of porencephaly.

Individuals with clefts in both hemispheres, or bilateral clefts, are often developmentally delayed and have delayed speech and language skills and corticospinal dysfunction. Individuals with smaller, unilateral clefts (clefts in one hemisphere) may be weak on one side of the body and may have average or near-average intelligence. Patients with schizencephaly may also have varying degrees of microcephaly, mental retardation, hemiparesis (weakness or paralysis affecting one side of the body), or quadriparesis (weakness or paralysis affecting all four extremities), and may have reduced muscle tone (hypotonia). Most patients have seizures and some may have hydrocephalus.

In schizencephaly, the neurons border the edge of the cleft implying a very early disruption in development. There is now a genetic origin for at least one type of schizencephaly. Other possible causes may include environmental exposures during  pregnancy such as medication taken by the mother, exposure to toxins, or a vascular insult. Often there are associated heterotopias (isolated islands of neurons) which indicate a failure of migration of the neurons to their final position in the brain.

Treatment for individuals with schizencephaly generally consists of physical therapy, treatment for seizures, and, in cases that are complicated by hydrocephalus, a shunt.

The prognosis for individuals with schizencephaly varies depending on the size of the clefts and the degree of neurological deficit.

http://www.medicinenet.com/script/main/art.asp?articlekey=15542

http://www.ohsu.edu/xd/research/clinical-research/hgi/consortium/disorders/schizencephaly.cfm

http://the-medical-dictionary.com/schizencephaly_article_2.htm

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Duodenal Duplication Cyst 

Duodenal duplication cyst is an extremely rare congenital anomaly usually diagnosed in childhood. In adults it usually manifests with symptoms related to complications as pancreatitis, jaundice, or intussusception. A 33-year-old woman with a history of intermittent jaundice was referred to our radiology department. She had complained of recurrent abdominal pain for 5 years. Her liver function tests were abnormal with slight elevation of bilirubin. Duplication cyst is a rare congenital condition that forms during the embryonic period of alimentary tract development. Most cysts are 2 to 4 cm in size. They occur frequently in the distal ileum. Conversely duodenal duplication cysts are very uncommon and represent only 2 to 12% of all digestive tract duplication.

Find a report of an Adult under going tests.

 https://www.hindawi.com/journals/crira/2016/3069576/

Duodenal duplication is a rare cause of acute pancreatitis in children. Click the link for more info from other reports into this condition.

http://onlinelibrary.wiley.com/doi/10.1002/jcu.20475/abstract

 Here, the Doctors present an 8-year-old girl with a duodenal duplication cyst.

http://www.wjgnet.com/1007-9327/full/v20/i4/1123.htm

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