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).
Aarskog disease; Aarskog-Scott syndrome; AAS; Faciodigitogenital syndrome; Gaciogenital dysplasia
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).
Symptoms of this condition include:
- Belly button that sticks out
- Bulge in the groin or scrotum
- Delayed sexual maturity
- Delayed teeth
- Downward palpebral slant to eyes (palpebral slant is the direction of the slant from the outer to inner corner of the eye)
- Hairline with a "widow's peak"
- Mildly sunken chest
- Mild to moderate mental problems
- Mild to moderate short height which may not be obvious until the child is 1 to 3 years old
- Poorly developed middle section of the face
- Rounded face
- Scrotum surrounds the penis (shawl scrotum)
- Short fingers and toes with mild webbing
- Single crease in the palm of the hand
- Small, broad hands and feet with short fingers and curved-in fifth finger
- Small nose with nostrils tipped forward
- Testicles that have not come down (undescended)
- Top portion of the ear folded over slightly
- Wide groove above the upper lip, crease below the lower lip
- Wide-set eyes with droopy eyelids
Exams and Tests
These tests may be done:
- Genetic testing for mutations in the FGD1 gene
Moving the teeth may be done to treat some of the abnormal facial features a person with Aarskog syndrome may have.
The following resources can provide more information on Aarskog syndrome:
- National Organization for Rare Disorders -- rarediseases.org/rare-diseases/aarskog-syndrome
- NIH/NLM Genetics Home Reference -- ghr.nlm.nih.gov/condition/aarskog-scott-syndrome
Some people may have some mental slowness, but children with this condition often have good social skills. Some males may have problems with fertility.
These complications can occur:
- Changes in the brain
- Difficulty growing in the first year of life
- Poorly aligned teeth
- Undescended testicles
When to Contact a Medical Professional
Call 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.
Genetic testing may be available for people with a family history of the condition or a known mutation of the gene that causes it.
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.
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. 7th ed. Philadelphia, PA: Elsevier Saunders; 2013:chap D.