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).
Also Known As:
Trichorhinophalangeal Syndrome Type II; Syndrome, Langer-Giedion; TRPSII; Tricho-Rhino-Phalangeal Syndrome Type II; Trichorhinophalangeal Syndrome Type 2; Trichorhinophalangeal Syndrome with Exostoses; Trichorhinophalangeal Syndrome, Type II; Acrodysplasia Vs; Giedion Langer Syndrome; Langer Giedion Syndrome; Syndrome, Giedion-Langer; Tricho Rhino Phalangeal Syndrome Type II; Acrodysplasia V; Giedion-Langer Syndrome