1 / 1
|
DeCS
|
|
|
Descriptor English:
|
|
Williams Syndrome
|
Descriptor Spanish:
|
|
síndrome de Williams
|
Descriptor Portuguese:
|
|
Síndrome de Williams
|
Synonyms English:
|
|
Aortic Stenoses, Hypercalcemia-Supravalvar
Aortic Stenosis, Hypercalcemia-Supravalvar
Beuren Syndrome
Chromosome 7q11.23 Deletion Syndrome
Contiguous Gene Syndrome, Williams
Hypercalcemia Supravalvar Aortic Stenosis
Hypercalcemia-Supravalvar Aortic Stenoses
Hypercalcemia-Supravalvar Aortic Stenosis
Stenoses, Hypercalcemia-Supravalvar Aortic
Stenosis, Hypercalcemia-Supravalvar Aortic
Supravalvar Aortic Stenosis Syndrome
Syndrome, Beuren
Syndrome, Williams
Syndrome, Williams-Beuren
Williams Beuren Syndrome
Williams Contiguous Gene Syndrome
Williams-Beuren Syndrome
|
Tree Number:
|
|
C10.597.606.360.970
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:
|
|
|
Record Number:
|
|
32574
|
Unique Identifier:
|
|
D018980
|
Occurrence in VHL:
|
|
|
Similar:
|
|
DeCS
|