Carpenter syndrome

MONDO:0019012

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.

Also known as: ACPS2, Carpenter 's syndrome, Carpenter syndrome, acrocephalopolysyndactyly type 2, acrocephalopolysyndactyly type II, type II Acrocephalopolysyndactyly, acrocephalosyndactyly, type II

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