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Carpenter syndrome

rare

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 · acrocephalopolysyndactyly type 2 · acrocephalopolysyndactyly type II · acrocephalosyndactyly, type II · Carpenter 's syndrome

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