Medicine:Hirschsprung's disease-type D brachydactyly syndrome

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Hirschsprung's disease-brachydactyly type D syndrome
Other namesFamilial Hirschsprung's disease and brachydactyly type D
SpecialtyMedical genetics
Symptomshirschsprung's disease and brachydactyly type D
CausesGenetic mutation
Preventionnone
FrequencyHirschsprung's disease: 1 in 5,000 live births.,[1] brachydactyly type D: 3% of the world population

Hirschsprung's disease-type D brachydactyly syndrome is a very rare genetic disorder which is characterized by the partial absence of nerves in the intestines (Hirschsprung's disease) and hypoplasia (or total aplasia) of the thumb's distal phalange (brachydactyly type D).[2][3] It has been described in 4 males from a 2-generation United States family. The inheritance pattern was hypothesized to be either X-linked recessive or autosomal dominant with reduced penetrance.[4][5][6]

References