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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).
Entry Term(s)
Acrodysplasia V
Giedion-Langer Syndrome
TRPSII
Tricho-Rhino-Phalangeal Syndrome Type II
Trichorhinophalangeal Syndrome Type 2
Trichorhinophalangeal Syndrome Type II
Trichorhinophalangeal Syndrome with Exostoses
Trichorhinophalangeal Syndrome, Type II
Previous Indexing
Exostoses, Multiple (1972-1989)
Public MeSH Note
90; was GIEDION-LANGER SYNDROME see EXOSTOSES, MULTIPLE 1968-89
Online Note
use EXOSTOSES, MULTIPLE to search GIEDION-LANGER SYNDROME 1968-89
History Note
90; was GIEDION-LANGER SYNDROME see EXOSTOSES, MULTIPLE 1968-89
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).