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Williams Syndrome

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.

Year introduced: 1996


WAGR Syndrome

A contiguous gene syndrome associated with hemizygous deletions of chromosome region 11p13. The condition is marked by the combination of WILMS TUMOR; ANIRIDIA; GENITOURINARY ABNORMALITIES; and INTELLECTUAL DISABILITY.

Year introduced: 1994


Rett Syndrome

An inherited neurological developmental disorder that is associated with X-LINKED INHERITANCE and may be lethal in utero to hemizygous males. The affected female is normal until the age of 6-25 months when progressive loss of voluntary control of hand movements and communication skills; ATAXIA; SEIZURES; autistic behavior; intermittent HYPERVENTILATION; and HYPERAMMONEMIA appear. (From Menkes, Textbook of Child Neurology, 5th ed, p199)

Year introduced: 1990


Mental Retardation, X-Linked, Syndromic 10 [Supplementary Concept]

associated with hemizygous or heterozygous mutations in the HSD17B10 gene; OMIM: 300438

Date introduced: November 5, 2012


Craniofrontonasal dysplasia [Supplementary Concept]

An X-linked developmental disorder that is more severe in heterozygous females than in hemizygous males. Females have frontonasal dysplasia, craniofacial asymmetry, CRANIOSYNOSTOSIS; bifid nasal tip, grooved nails, wiry hair, and thoracic skeleton abnormalities; males typically show only HYPERTELORISM. It is caused by mutations in the EPHRIN-B1 (EFNB1) gene. OMIM: 304110

Date introduced: August 25, 2010

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