C98873Level 9
Type II Acrocephalopolysyndactyly
**Semantic type:** Disease or Syndrome
**Definition:** 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.
**Synonyms:** - Acrocephalopolysyndactyly Type II - Acrocephalopolysyndactyly Type II - Carpenter Syndrome - Carpenter Syndrome - Carpenter's Syndrome
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