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
ÂThere 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
You may also like to learn about:
Congenital defect
Cryptorchidism
Hernia
Behaviour disorder
Genetic counseling
Seizures