Search on: ACHONDROPLASIA 
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Descriptor English:   Achondroplasia 
Descriptor Spanish:   Acondroplasia 
Descriptor Portuguese:   Acondroplasia 
Synonyms English:   Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Achondroplasias
Dysplasia, SADDAN
Dysplasias, SADDAN
SADDAN
SADDAN Dysplasia
SADDAN Dysplasias
SADDANs
Severe Achondroplasia with Developmental Delay and Acanthosis Nigricans
Skeleton Skin Brain Syndrome
Skeleton-Skin-Brain Syndrome
Skeleton-Skin-Brain Syndromes
Syndrome, Skeleton-Skin-Brain
Syndromes, Skeleton-Skin-Brain  
Tree Number:   C05.116.099.343.110
C05.116.099.708.017
C16.320.240.500
Definition English:   An autosomal dominant disorder that is the most frequent form of short-limb dwarfism. Affected individuals exhibit short stature caused by rhizomelic shortening of the limbs, characteristic facies with frontal bossing and mid-face hypoplasia, exaggerated lumbar lordosis, limitation of elbow extension, GENU VARUM, and trident hand. (Online Mendelian Inheritance in Man, http://www.ncbi.nlm.nih.gov/Omim, MIM#100800, April 20, 2001) 
See Related English:   Receptor, Fibroblast Growth Factor, Type 3
 
Allowable Qualifiers English:  
BL blood CF cerebrospinal fluid
CI chemically induced CL classification
CO complications DI diagnosis
DG diagnostic imaging 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 RT radiotherapy
RH rehabilitation SU surgery
TH therapy UR urine
VE veterinary VI virology
Record Number:   139 
Unique Identifier:   D000130 

Occurrence in VHL:
 

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DeCS