Search on: GIEDION-LANGER 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. 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). 
Indexing Annotation English:   an osteochondrodysplasia
History Note English:   90; was GIEDION-LANGER SYNDROME see EXOSTOSES, MULTIPLE 1968-89 
Allowable Qualifiers English:  
BL blood CF cerebrospinal fluid
CI chemically induced CL classification
CO complications CN congenital
DI diagnosis DH diet therapy
DT drug therapy EC economics
EM embryology EN enzymology
EP epidemiology EH ethnology
ET etiology GE genetics
HI history IM immunology
ME metabolism MI microbiology
MO mortality NU nursing
PS parasitology PA pathology
PP physiopathology PC prevention & control
PX psychology RA radiography
RI radionuclide imaging RT radiotherapy
RH rehabilitation SU surgery
TH therapy US ultrasonography
UR urine VE veterinary
VI virology  
Record Number:   24765 
Unique Identifier:   D015826 

Occurrence in VHL:
 

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