Hirschsprung
Mowat-Wilson syndrome is a genetic condition that affects many parts of the body. More than 200 RET gene mutations are known to cause this condition.
Hirschsprung Disease Hd
De ziekte van Hirschsprung wordt vaker gezien bij jongens.
. These genetic changes result in a nonfunctional version of the RET protein that cannot interact with growth factors or. Major signs of this disorder frequently include distinctive facial features intellectual disability delayed development an intestinal disorder called Hirschsprung disease and other birth defects. De ziekte van Hirschsprung of congenitaal megacolon is een aangeboren afwijking van de darmen die voornamelijk voorkomt in het laatste deel van het colon dikke darmHet is een relatief zeldzame aandoening die bij ongeveer 1 op de 5000 levendgeborenen voorkomt.
Children with Mowat-Wilson syndrome have a square-shaped face with deep-set widely spaced eyes. If you would like to schedule an appointment with one of our nationally ranked specialists or Primary Care physicians please click or call 800-881-7385. Mutations in the RET gene are the most common genetic cause of Hirschsprung disease a disorder that causes severe constipation or blockage of the intestine.
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