Alternative Names
AAS; Faciodigitogenital Syndrome; Faciogenital Dysplasia; FGDY; Aarskog-Scott Syndrome
Symptoms & Characteristics
Aarskog syndrome is a genetic condition characterized by short stature, facial abnormalities, skeletal abnormalities, eye problems as well as genital abnormalities (primarily shawl scrotum in boys). Intelligence is delayed in about 30% of affected people and behavioral problems, such as hyperactivity, are common.
Management & Treatment
There is no cure for Aarskog syndrome. However, early diagnosis, routine surveillance and treatment can help manage some of the symptoms and sometimes prevent related problems.
How Common Is It?
Aarskog is considered a rare condition, as there are only about 100 cases reported worldwide.
Genetics & Inheritance
Aarskog syndrome is typically caused by mutations in a gene called FGD1 on the X chromosome at the location p11.21.
- However, there have been a couple of case reports of families with Aarskog or Aarskog-like characteristics, which appear to be caused by different genes.
Aarskog syndrome is inherited in an X-linked recessive pattern. A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), a mutation must be present in both copies of the gene to cause the disorder. Males are affected by X-linked recessive disorders much more frequently than females.
- A striking characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.
- In X-linked recessive inheritance, a female with one altered copy of the gene in each cell is called a carrier. Although most carriers do not show signs and symptoms of the disorder, in some cases, carriers show mild characteristics of the syndrome.
There are other genetic conditions that have characteristics that overlap with Aarskog syndrome. A genetic consultation with a trained genetic professional is important for a complete evaluation, accurate diagnosis, as well as discussion of the benefits and limitations of testing and recurrence risk.
Genetic Testing
Clinical genetic testing for Aarskog syndrome can be broken down into two categories: diagnostic testing and carrier testing.
- Diagnostic testing may be used to confirm or rule out a clinical diagnosis in a person suspected to have the disorder.
- Carrier testing is typically offered after a clinical diagnosis and/or mutations have already been identified in an affected family member(s).
Clinical genetic testing for Aarskog syndrome may be available through an in person genetic consultation for people who are considered at risk. Use our find a genetic professional directory to locate a trained genetic professional in your area.
Support & More Information
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