Aarskog syndrome

Disease Overview

Aarskog syndrome is an inherited disease that affects a person’s height, muscles, skeleton, genitals, and appearance of the face.[2620] 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.[2620][2621]

Synonyms

• Aarskog Scott syndrome
• Faciodigitogenital syndrome
• Faciogenital dysplasia
• Aarskog disease
• FGDY
• Scott Aarskog syndrome