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

• • a widow`s peak hairline
• • forward-slanting nostrils
• • an unusually broad or small nose
• • a round face
• • wide-set eyes
• • slanted eyes
• • Anteverted nostrils
• • Broad upper lip
• • Small hands
• • Growth retardation
• • Mild mental retardation
• • Short stature
• • Hyperactive
• • Attention deficit disorder

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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