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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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