Définition:
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 ().
Synonyme(s):
Acrodysplasie V /
Dysplasie tricho-rhino-phalangienne de type 2 /
Dysplasie tricho-rhino-phalangienne de type II /
Syndrome tricho-phalangique /