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).
an osteochondrodysplasia
Other names Trichorhinophalangeal Syndrome Type II; Giedion-Langer Syndrome; Acrodysplasia V; Syndrome, Langer-Giedion; Syndrome, Giedion-Langer; Langer Giedion Syndrome; Giedion Langer Syndrome; Trichorhinophalangeal Syndrome with Exostoses
