Schinzel-Giedion Midface-Retraction Syndrome

**Semantic type:** Disease or Syndrome

**Definition:** An autosomal dominant disorder associated with mutation(s) in the SETBP1 gene, encoding SET-binding protein. It is characterized by unique facial features, including midface hypoplasia, skeletal abnormalities, and mental retardation.

**Synonyms:** - Schinzel-Giedion Syndrome