Acrocephalopolysyndactyly 2

An extremely rare autosomal recessive syndrome characterized by premature closure of cranial sutures leading to cone-shaped head, fusion of the digits, and the presence of more digits than normal. It may be associated with heart defects, single horseshoe-shaped kidney, short stature, undescended testes, and mild mental retardation.

Disease Alternative Name

acrocephalopolysyndactyly type ii
carpenter syndrome
type ii acrocephalopolysyndactyly

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