Search on: LANGER-GIEDION SYNDROME 
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Descriptor English:   Langer-Giedion Syndrome 
Descriptor Spanish:   Síndrome de Langer-Giedion 
Descriptor Portuguese:   Síndrome de Langer-Giedion 
Synonyms English:   Acrodysplasia V
Giedion-Langer Syndrome
Trichorhinophalangeal Syndrome Type II  
Tree Number:   C05.116.099.708.582
Definition English:   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 (EXOSTOSES, HEREDITARY MULTIPLE). 
Indexing Annotation English:   an osteochondrodysplasia
History Note English:   90; was GIEDION-LANGER SYNDROME see EXOSTOSES, MULTIPLE 1968-89 
Allowable Qualifiers English:  
blood cerebrospinal fluid
chemically induced classification
congenital complications
diet therapy diagnosis
drug therapy economics
ethnology embryology
enzymology epidemiology
etiology genetics
history immunology
metabolism microbiology
mortality nursing
pathology prevention & control
physiopathology parasitology
psychology radiography
rehabilitation radionuclide imaging
radiotherapy surgery
therapy urine
ultrasonography veterinary
virology  
Record Number:   24765 
Unique Identifier:   D015826 

Occurrence in VHL:
 

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