Aarskog Syndrome

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

Also Known As:

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

Musculoskeletal Diseases: 719
- Bone Diseases: 5863
  - Developmental Bone Diseases: 153
    - Dwarfism: 1191
      - Aarskog Syndrome: 33
- Hand Deformities: 72
  - Congenital Hand Deformities: 2
    - Aarskog Syndrome: 33
- Musculoskeletal Abnormalities: 43
  - Congenital Limb Deformities: 8
    - Congenital Upper Extremity Deformities
      - Congenital Hand Deformities: 2
        Aarskog Syndrome: 33
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Congenital Abnormalities: 25723
  - Cardiovascular Abnormalities: 452
    - Congenital Heart Defects: 8917
      - Aarskog Syndrome: 33
  - Musculoskeletal Abnormalities: 43
    - Congenital Limb Deformities: 8
      - Congenital Upper Extremity Deformities
        Congenital Hand Deformities: 2
        Aarskog Syndrome: 33
- Inborn Genetic Diseases: 11939
  - Dwarfism: 1191
    - Aarskog Syndrome: 33
  - X-Linked Genetic Diseases: 42
    - Aarskog Syndrome: 33
Endocrine System Diseases: 968
- Dwarfism: 1191
  - Aarskog Syndrome: 33
Body Regions
- Head
  - Face
    - Aarskog Syndrome: 33
Urogenital System
- Genitalia
  - Male Genitalia
    - Aarskog Syndrome: 33
Cardiovascular Diseases: 91362
- Heart Diseases: 26014
  - Congenital Heart Defects: 8917
    - Aarskog Syndrome: 33
- Cardiovascular Abnormalities: 452
  - Congenital Heart Defects: 8917
    - Aarskog Syndrome: 33

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Disease

Drug/Important Bio-Agent (IBA)