Beschreibung:
Autosomal dominant disorder characterized by cone-shaped epiphyses in the hands and multiple cartilaginous exostoses. Mental retardation and abnormalities of chromosome 8 are often present. The exostoses in this syndrome appear identical to those of hereditary multiple exostoses ().
Synonym(s):
Akrodysplasie V /
Giedion-Langer-Syndrom /
Tricho-rhino-phalangeale Dysplasie Typ II /