Trichorhinophalangeal Syndrome Type II

**Semantic type:** Disease or Syndrome

**Definition:** A rare, usually sporadic and less frequently familiar syndrome caused by deletions on the long arm of chromosome 8. It is characterized by distinctive facial appearance (sparse hair, pear-shaped nose, and large ears), multiple exostoses, redundant skin, and mental retardation.

**Synonyms:** - Langer-Giedion Syndrome