Langer-Giedion Syndrome

**Definition:** Autosomal dominant disorder characterized by cone-shaped epiphyses in the hands and multiple cartilaginous exostoses. INTELLECTUAL DISABILITY and abnormalities of chromosome 8 are often present. The exostoses in this syndrome appear identical to those of hereditary multiple exostoses (EXOSTOSES, HEREDITARY MULTIPLE).

**Tree numbers:** - C05.116.099.708.582

**Synonyms:** - Acrodysplasia V - Giedion-Langer Syndrome - Trichorhinophalangeal Syndrome Type II - Trichorhinophalangeal Syndrome with Exostoses - Trichorhinophalangeal Syndrome, Type II - Tricho-Rhino-Phalangeal Syndrome Type II - TRPSII - Trichorhinophalangeal Syndrome Type 2