C101039Level 8
Escobar Syndrome
**Semantic type:** Congenital Abnormality
**Definition:** A 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.
**Synonyms:** - Multiple Pterygium Syndrome, Escobar Variant - Non-Lethal Multiple Pterygium Syndrome
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