Aarskog Syndrome [Supplementary Concept]

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 introduced: June 25, 2010

MeSH Unique ID: C535331

Heading Mapped to:

• Dwarfism
• Face/abnormalities
• Genitalia, Male/abnormalities
• Hand Deformities, Congenital
• Heart Defects, Congenital
• Genetic Diseases, X-Linked

Entry Terms:

• Scott Aarskog Syndrome
• Faciogenital Dysplasia
• Facio-Digito-Genital Dysplasia
• Faciodigitogenital Syndrome
• Aarskog-Scott Syndrome
• Aarskog Disease
• Faciodigitogenital Syndrome, Recessive
• Kuwait Type Faciodigitogenital Syndrome
• Aarskog-Like Syndrome