Aarskog syndrome is a very rare disease that affects a person's height, muscles, skeleton, genitals, and appearance. It can be passed down through families (inherited).
Causes
Aarskog syndrome is a genetic disorder that is linked to the X chromosome. It affects mainly males, but females may have a milder form. The condition is caused by changes (mutations) in a gene called "faciogenital dysplasia" (FGD1).
Exams and Tests
These tests may be done:
- Genetic testing for mutations in the FGD1 gene
- X-rays
Treatment
Moving the teeth may be done to treat some of the abnormal dental features a person with Aarskog syndrome may have.
Support Groups
More information and support for people with Aarskog syndrome and their families can be found at:
- National Organization for Rare Disorders -- rarediseases.org/rare-diseases/aarskog-syndrome
- NIH Genetic and Rare Diseases Information Center -- rarediseases.info.nih.gov/diseases/4775/aarskog-syndrome
Outlook (Prognosis)
Some people may have some mental slowness, but children with this condition often have good social skills. Some males may have problems with fertility.
Possible Complications
These complications can occur:
- Changes in the brain
- Difficulty growing in the first year of life
- Poorly aligned teeth
- Seizures
- Undescended testicles
When to Contact a Medical Professional
Contact your health care provider if your child has delayed growth or if you notice any symptoms of Aarskog syndrome. Seek genetic counseling if you have a family history of Aarskog syndrome. Contact a genetic specialist if your provider thinks you or your child may have Aarskog syndrome.
Prevention
Genetic testing may be available for people with a family history of the condition or a known mutation of the gene that causes it.
Alternative Names
Aarskog disease; Aarskog-Scott syndrome; AAS; Faciodigitogenital syndrome; Gaciogenital dysplasia
Images
References
D'Cunha Burkardt D, Graham JM. Abnormal body size and proportion. In: Pyeritz RE, Korf BR, Grody WW, eds. Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics: Clinical Principles and Applications. 7th ed. Philadelphia, PA: Elsevier; 2019:chap 4.
Haddad J. Congenital malformations of the ear. In: Kliegman RM, St. Geme JW, Blum NJ, et al, eds. Nelson Textbook of Pediatrics. 22nd ed. Philadelphia, PA: Elsevier; 2025:chap 678.
Jones KL, Jones MC, Del Campo M. Moderate short stature, facial ± genital. In: Jones KL, Jones MC, Del Campo M, eds. Smith's Recognizable Patterns of Human Malformation. 8th ed. Philadelphia, PA: Elsevier; 2022:chap D.
Review Date 12/31/2023
Updated by: Anna C. Edens Hurst, MD, MS, Associate Professor in Medical Genetics, The University of Alabama at Birmingham, Birmingham, AL. Review provided by VeriMed Healthcare Network. Also reviewed by David C. Dugdale, MD, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team.