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Carpenter syndrome
rareAn 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.
- Identifiers
- MONDO:0019012 Orphanet:65759
- Part of
- AcrocephalopolysyndactylyMultiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
- Also known as
- ACPS2 · acrocephalopolysyndactyly type 2 · acrocephalopolysyndactyly type II · acrocephalosyndactyly, type II · Carpenter 's syndrome
Subtypes
| Disease | Subtypes |
|---|---|
| MEGF8-related Carpenter syndrome | |
| RAB23-related Carpenter syndrome |
Projects
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