Carpenter syndrome
Carpenter 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.
Also known as ACPS2, acrocephalopolysyndactyly type 2, acrocephalopolysyndactyly type II, Carpenter 's syndrome, Carpenter syndrome, type II Acrocephalopolysyndactyly — per MONDO