This information is provided by the National Institutes of Health (NIH) Genetic and Rare Diseases Information Center (GARD).
Aarskog syndrome is an inherited disease that affects a person’s height, muscles, skeleton, genitals, and appearance of the face. Intellectual development may also be affected. About 20 percent of people with Aarskog-Scott syndrome have mutations in the FGD1 gene. The cause in other affected individuals is unknown. The condition is inherited in an X-linked recessive pattern.
For more information, visit GARD.