Also known as Faciodigitogenital syndrome, Shawl scrotum syndrome and Faciogenital dysplasia
ABOUT THE DISEASE
Aarskog syndrome is a very rare genetic disorder caused by a mutation on X-chromosome. This disorder can affect a Child`s height, muscles, skeleton, genitals, and appearance of the face. It primarily affects males, the diseased gene being passed on from their mothers. Female children can be affected by a milder form of the disease. Aarskog syndrome is a lifelong condition without a cure.
CAUSES
Aarskog syndrome is a genetic disorder that is inherited in an X-linked recessive pattern.It is caused by a mutation on faciogenital dysplasia gene, or FGD1 gene, which is linked to X-chromosome.
SYMPTOMS
DIAGNOSIS
- Physical examination- Genetic testing for changes (mutations) in the FGD1 gene- X-rays
TREATMENT METHODS
There is no cure for Aarskog syndrome. Treatment is typically limited to correcting any abnormalities. Treatment will involve surgical procedures, such as:
• orthodontic and dental surgery• hernia repair surgery• testicle surgery
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