MeSH Browser

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: 30
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

Concept UI: M0529792
Registry Number: 0
Terms: Aarskog Syndrome Preferred Term
Term UI T844628
Date05/23/2013
LexicalTag EPO
ThesaurusID; Scott Aarskog Syndrome
Term UI T844606
Date05/23/2013
LexicalTag EPO
ThesaurusID ORD (2010); Faciogenital Dysplasia
Term UI T844607
Date05/23/2013
LexicalTag NON
ThesaurusID; Aarskog Disease
Term UI T844631
Date05/23/2013
LexicalTag EPO
ThesaurusID ORD (2010); Faciodigitogenital Syndrome
Term UI T844629
Date05/23/2013
LexicalTag NON
ThesaurusID; Aarskog-Scott Syndrome
Term UI T844630
Date05/23/2013
LexicalTag EPO
ThesaurusID; Facio-Digito-Genital Dysplasia
Term UI T840807
Date04/18/2013
LexicalTag NON
ThesaurusID GHR (2014)

Aarskog Syndrome MeSH Supplementary Concept Data 2023