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

2 clinical trials for this condition and its sub-types, 0 tagged with Carpenter syndrome itself.

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Part of

↑ Multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome (91) ↑ Acrocephalopolysyndactyly (1)

Sub-types of Carpenter syndrome

MEGF8-related Carpenter syndrome 0 trials
RAB23-related Carpenter syndrome 0 trials

Including sub-types (2) Tagged with Carpenter syndrome (0)

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