Aarskog syndrome is a genetic condition that affects a person’s physical and mental development. Features of this condition include unique facial features, such as wide-set eyes (hypertelorism), a small nose, and a widow’s peak, as well as short fingers (brachydactyly) and extra skin between the fingers (syndactyly). Other features of this syndrome can include heart abnormalities, a cleft lip, and an opening in the roof of the mouth (cleft palate). Males with this condition tend to have abnormalities of the genitals, including a wrapping of the scrotum around the penis (shawl scrotum) or undescended testes. People with Aarskog syndrome may also have mild to severe learning problems.
The genetic cause for many cases of Aarskog syndrome is not known. However, about 20% of the cases are due to a change (mutation) in the FGD1 gene. The FGD1 gene is located on the X chromosome, which means Aarskog is inherited in an X-linked recessive manner. Males have one X chromosome (one copy of the FGD1 gene) and females have two X chromosomes (two copies of the FGD1 gene). When a male has a mutation in his one copy of the gene, he has Aarskog syndrome. When a female has a mutation in one copy, she has another working copy and usually does not show features of the condition. However, occasionally females with a mutation show mild features as well.
Aarskog syndrome is usually considered as a diagnosis in an individual with facial features suggestive of the condition. Genetic testing may be used to confirm the diagnosis. There is not a cure for Aarskog syndrome, but in some cases surgery may be needed to address some of the features. If your child has been diagnosed with Aarskog syndrome, talk to your doctor about treatment options. Meeting with a genetic counselor may be helpful to discuss the diagnosis further. Support groups are a good resource for additional information and to connect with other families who are affected by Aarskog syndrome.