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Aarskog Syndrome MeSH Supplementary Concept Data 2022


MeSH Supplementary
Aarskog Syndrome
Unique ID
C535331
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/C535331
Entry Term(s)
Aarskog Disease
Aarskog-Like Syndrome
Aarskog-Scott Syndrome
Facio-Digito-Genital Dysplasia
Faciodigitogenital Syndrome
Faciodigitogenital Syndrome, Recessive
Faciogenital Dysplasia
Kuwait Type Faciodigitogenital Syndrome
Scott Aarskog Syndrome
Registry Number
0
Heading Mapped to
*Dwarfism
Face / *abnormalities
Genitalia, Male / *abnormalities
*Hand Deformities, Congenital
*Heart Defects, Congenital
*Genetic Diseases, X-Linked
Frequency
27
Note
An X-linked recessive disorder with wide phenotypic variability characterized by short stature, HYPERTELORISM, shawl scrotum, and BRACHYDACTYLY. Other features, such as joint hyperextensibility, short nose, widow's peak, and INGUINAL HERNIA, may also occur. Most patients do not have intellectual disability, but some may have neurobehavioral features. Carrier females may present with subtle features. Mutations in the FGD1 gene have been identified. OMIM: 305400. Aarskog-like syndrome is a similar autosomal recessive disorder. OMIM: 227330
Date of Entry
2010/06/25
Revision Date
2015/08/17
Aarskog Syndrome Preferred
Faciodigitogenital Syndrome, Recessive Related
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