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).

Annotation

an osteochondrodysplasia

DUI

D015826 MeSH Browser

CUI

M0024244

Previous indexing

Exostoses, Multiple (1972-1989)

History note

90; was GIEDION-LANGER SYNDROME see EXOSTOSES, MULTIPLE 1968-89

Online note

use EXOSTOSES, MULTIPLE to search GIEDION-LANGER SYNDROME 1968-89

Public note

90; was GIEDION-LANGER SYNDROME see EXOSTOSES, MULTIPLE 1968-89