Aarskog-Scott syndrome (patient information)
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Assistant Editors-In-Chief: Alexandra M. Palmer, Kristin Feeney, B.S. [2]
Overview
Aarskog-Scott syndrome is a rare, genetic disease that affects a person's height, muscles, skeleton, genitals, and appearance of the face. As an inherited disease, Aarskog-Scott syndrome is pass down through family lineages. This condition mainly affects males, although females may have mild features of the syndrome.
What are the symptoms of Aarskog-Scott syndrome?
Symptoms of Aarksog-Scott syndrome:
- Distinct facial features such as: a downward slant to the eyes, hairline with a "widow's peak, a long area between the nose and mouth (philtrum), poorly developed midportion of the face and overall rounding of the face, small nose with nostrils tipped forward, wide-set eyes (hypertelorism) with droopy eyelids, and a wide groove above the upper lip, crease below the lower lip
- Other body features: belly button that sticks out, bulge in the groin or scrotum (inguinal hernia) or soft out-pouching around the belly button (umbilical hernia), delayed dental development, mildly sunken chest (pectus excavatum), mild to moderate short stature which may not be obvious until the child is 1 - 3 years old, short fingers and toes with mild webbing (syndactyly), single crease in palm of hand (simian crease), small, broad hands and feet with short fingers (brachydactyly) and curved-in 5th finger (fifth finger clinodactyly), and top portion of the ear folded over slightly of the ear folded over slightly
- Reproductive development issues: delayed sexual maturation, shawl scrotum in which the scrotum surrounds the penis; less often, males have undescended testiles (cryptorchidism)
- Mild to moderate neurological delay
Some people with Aarskog-Scott syndrome are born with more serious abnormalities, such as heart defects or a cleft lip with or without an opening in the roof of the mouth (cleft palate).
What causes Aarskog-Scott syndrome?
Aarskog syndrome is a genetic disorder. It affects mainly males, but females may have a milder form. The condition is caused by changes (mutations) in a gene called "faciogenital dysplasia" (FGDY1). Only about 20 percent of people with this disorder have identifiable mutations in the FGD1 gene. The cause of Aarskog-Scott syndrome in other affected individuals is unknown.
Who is at highest risk for Aarskog-Scott syndrome?
Aarskog-Scott syndrome is a genetic disorder. Anyone with a family history of Aarskog-Scott syndrome is at risk. Aarskog-Scott syndrome is inherited in an X-linked recessive pattern. The gene associated with this condition is located on the X chromosome, which is 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 would have to occur in both copies of the gene to cause Aarskog-Scott syndrome. Because it is unlikely that females will have two altered copies of this gene, males are affected by X-linked recessive disorders much more frequently than females. Females who carry one altered copy of the FGD1 gene may show mild signs of the condition, such as hypertelorism, short stature, or a widow's peak hairline. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.
How to know you have Aarskog-Scott syndrome?
- Genetic testing for mutations in the FGDY1 gene
- X-rays
When to seek urgent medical care
Call your health care provider if your child has delayed growth or if you notice any of the symptoms described here. Seek genetic counseling if there is a history of Aarskog-Scott syndrome in your family. Contact a genetic specialist if your doctor thinks you or your child may have Aarskog-Scott syndrome.
Treatment options
Moving the teeth (orthodontic treatment) may be done for some of the abnormal facial features.
Diseases with similar symptoms
Where to find medical care for Aarskog-Scott syndrome
Directions to Hospitals Treating Aarskog-Scott syndrome
Prevention of Aarskog-Scott syndrome
Prenatal testing may be available for those with a family history of the condition or known mutation of the gene. As it is an inherited disease, there are no prevention methods after birth.
What to expect (Outlook/Prognosis)
Some people may have mild degrees of mental slowness, but affected children usually have good social skills. Some males may have problems with fertility. Although people with Aarskog-Scott syndrome usually have mild to moderate short stature during childhood, their growth usually catches up during puberty.
Possible complications
- Cystic changes in the brain
- Difficulty growing in the first year of life
- Poorly aligned teeth
- Seizures
- Undescended testicle
- Infertility
Sources
Genetics Home Reference: Aarskog-Scott syndrome National Library of Medicine