Living with Hypoplastic Thumbs

I created this support group, Living with Hypoplastic Thumbs with/without Pollicization, for my daughter, as we had searched the Internet and not found another of this type. My daughter had asked if there are other children out there like her. I know there are. To our surprise, we not only found children but adults, as well, all around the globe. Our goal is to bring people, family and friends together for support so that they know they are not alone. Basically, we’re a support group for infants, children, teens, adults who have hypoplastic thumbs. Some have had pollicization and others have opted not to have the procedure done. We also welcome family and friends to come visit our group too. It is a closed group, so they’ll need to request to join.

https://www.facebook.com/groups/OurThumbs/

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Myhre Syndrome

My son will be 9 on Monday the 6th Feb 2017 he has this rare condition and others as seen here, Chiari malformation. Aorta stenosis Wolfe Parkinson white syndrome, we are looking for anyone who has one of the above, as it is kinda lonely with no one to talk to about all this that understands.

This is a wee bit about Myhre Syndrome.

Synonyms of Myhre Syndrome, Growth-Mental Deficiency Syndrome of Myhre, Laryngotracheal stenosis, arthropathy, prognathism, and short stature, LAPS Syndrome, As you can see we have others linked into this with our Son.

Myhre syndrome is an extremely rare genetic disorder characterised by short stature, unusual facial features, mild to moderate intellectual disability and various bone (skeletal) abnormalities. Characteristic facial features may include abnormally narrow skin folds (palpebral fissures) between the upper and lower eyelids (blepharophimosis), underdevelopment of the upper jaw bone (maxillary hypoplasia), and an unusually prominent jaw (prognathism). Other findings may include hearing impairment, short, stubby fingers and toes (brachydactyly), congenital heart defects, muscles that appear abnormally large (muscular pseudohypertrophy), joint stiffness, and narrowing (stenosis) of the voice box (larynx) and windpipe (trachea). Myhre syndrome is caused by mutations in the SMAD4 gene. All molecularly proven cases have been due to a de novo mutation (a new mutation that arises around the time of conception, not carried by the parents). A person with Myhre syndrome would have a 50-50 chance of transmitting this to each child. Introduction Myhre syndrome was first described in the medical literature in 1981 by Drs. Myhre, Ruvalcaba and Graham. In 1998, Hopkin et al., reported on a condition that in 2002 would be termed (L) laryngotracheal stenosis (A) arthropathy, (P) prognathism, (S) short stature syndrome or LAPS by Lindor et al. Researchers eventually learned that Myhre and LAPS syndromes were caused by mutations in the same gene and most likely are different expressions (variants) of the same disorder.

https://rarediseases.org/rare-diseases/myhre-syndrome/

My Name is Shannon Stewart, we would love to hear from other’s here are my contact details. We live in the USA

upsidedownforever@yahoo.com

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