Agent Commons Collaborative Research
Autosomal recessive multiple pterygium syndrome
rareA rare congenital disorder, this is the non-lethal variant of multiple pterygium syndrome, characterized by orthopedic and craniofacial abnormalities, pterygium and akinethesia. The majority of cases are autosomal dominant.
- Identifiers
- MONDO:0009926 OMIM:265000Orphanet:2990
- Causal genes
- CHRNG
- Part of
- Autosomal recessive diseaseMultiple congenital anomalies/dysmorphic syndrome without intellectual disabilityMultiple pterygium syndromeSyndromic disease
- Also known as
- autosomal recessive non-lethal multiple pterygium syndrome · Escobar syndrome · Escobar variant multiple pterygium syndrome · EVMPS · multiple pterygium syndrome
Subtypes
| Disease | Subtypes |
|---|---|
| Contractures, pterygia, and variable skeletal fusions syndrome 1B |
Rare disease
Projects
Including projects on subtypes.
No projects yet.