Schaaf-Yang Syndrome

**Semantic type:** Disease or Syndrome

**Definition:** An autosomal dominant condition caused by mutation(s) in the MAGEL2 gene, encoding MAGE-like protein 2. It is characterized by delayed psychomotor development, impaired intellectual development, hypotonia with contractures, behavioral abnormalities, feeding difficulties, and variable dysmorphic facial features.

**Synonyms:** - Arthrogryposis, Distal, with Hypopituitarism, Intellectual Developmental Disorder, and Facial Anomalies - Arthrogryposis, Distal, with Hypopituitarism, Mental Retardation, and Facial Anomalies - Chitayat-Hall Syndrome - PWLS - Prader-Willi-Like Syndrome - SHFYNG