**Aarskog syndrome can happen because of changes in the FGD1 gene, although the cause remains unknown in many people.**
This gene helps control signals involved in the development of bones and other tissues. When FGD1 is involved, the condition follows an X-linked inheritance pattern and affects males more often than females. Your family history and genetic test results help a clinician explain how the condition could pass through your family. Keeping family health records and discussing testing with a genetic counselor can help you understand your options.
Why Aarskog syndrome happens
Common questions
Why does Aarskog syndrome happen?
Aarskog syndrome, also called Aarskog-Scott syndrome, can result from changes in the FGD1 gene that disrupt signals needed for normal development of bones and other tissues. FGD1 is on the X chromosome, so related cases follow an X-linked inheritance pattern and affect males more often. Females with one changed copy may have mild features. Many people with the condition have no identifiable FGD1 change, so a negative test does not rule it out. If you have concerns about your child or family history, a clinician or genetic counselor can explain evaluation, testing, and inheritance.