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Williams syndrome

Synonyms
CHROMOSOME 7q11.23 DELETION SYNDROME, 1.5- TO 1.8-MB; Williams-Beuren syndrome
Modes of inheritance
Autosomal dominant inheritance (Orphanet)

Summary

Excerpted from the GeneReview: Williams Syndrome
Williams syndrome (WS) is characterized by developmental delay, intellectual disability (usually mild), a specific cognitive profile, unique personality characteristics, cardiovascular disease (supravalvar aortic stenosis, peripheral pulmonary stenosis, hypertension), connective tissue abnormalities, growth deficiency, endocrine abnormalities (early puberty, hypercalcemia, hypercalciuria, hypothyroidism), and distinctive facies. Hypotonia and hyperextensible joints can result in delayed attainment of motor milestones. Feeding difficulties often lead to poor weight gain in infancy.
Full text of GeneReview (by section):
Summary
Diagnosis
Clinical Characteristics
Genetically Related (Allelic) Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
Chapter Notes
References
Authors:
Colleen A Morris
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Available tests

62 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (62 available)

Cytogenetics Tests

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ADCL1, SVAS, WBS, WS, ELN
    Summary: elastin

  • Also known as: CHREBP, MIO, MLX, MONDOB, WBSCR14, WS-bHLH, bHLHd14, MLXIPL
    Summary: MLX interacting protein like

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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