Search on: WILLIAMS SYNDROME 
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Descriptor English:   Williams Syndrome 
Descriptor Spanish:   Síndrome de Williams 
Descriptor Portuguese:   Síndrome de Williams 
Synonyms English:   Beuren Syndrome
Chromosome 7q11.23 Deletion Syndrome
Hypercalcemia-Supravalvar Aortic Stenosis
Supravalvar Aortic Stenosis Syndrome
Williams Contiguous Gene Syndrome
Williams-Beuren Syndrome
Aortic Stenoses, Hypercalcemia-Supravalvar
Aortic Stenosis, Hypercalcemia-Supravalvar
Hypercalcemia Supravalvar Aortic Stenosis
Hypercalcemia-Supravalvar Aortic Stenoses
Stenoses, Hypercalcemia-Supravalvar Aortic
Stenosis, Hypercalcemia-Supravalvar Aortic
Syndrome, Beuren
Syndrome, Williams
Syndrome, Williams-Beuren
Williams Beuren Syndrome
Contiguous Gene Syndrome, Williams  
Tree Number:   C10.597.606.643.970
C14.280.484.150.535.960
C16.131.260.970
C16.320.180.970
Definition English:   A disorder caused by hemizygous microdeletion of about 28 genes on chromosome 7q11.23, including the ELASTIN gene. Clinical manifestations include SUPRAVALVULAR AORTIC STENOSIS; MENTAL RETARDATION; elfin facies; impaired visuospatial constructive abilities; and transient HYPERCALCEMIA in infancy. The condition affects both sexes, with onset at birth or in early infancy. 
Indexing Annotation English:   do not confuse with Williams-Campbell syndrome, a congenital cartilage deficiency
See Related English:   Elastin
Intellectual Disability
 
History Note English:   96 
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:   32574 
Unique Identifier:   D018980 

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