1p36 Deletion Syndrome

**Semantic type:** Disease or Syndrome

**Definition:** A rare syndrome caused by the deletion of the distal band on the short arm of chromosome 1. It is characterized by a distinctive facial appearance (microcephaly, deep set eyes, flat nose, and pointed chin), developmental abnormalities, mental retardation, seizures, hypotonia, hearing loss, and heart defects.

**Synonyms:** - 1p Telomere Deletion Syndrome