Aarskog Syndrome

Aarskog Syndrome is a rare genetic disorder associated with the X chromosone. Given that men only have one X Aarskog is more common in men (greatly so). Treatment of the symptoms is in many cases possible but as yet the underlying condition is not.

Aarskog syndrome is an inherited disease characterized by short stature, facial abnormalities, musculoskeletal, and genital anomalies.

Aarskog syndrome is an X-linked recessive genetic disorder (although some studies show it could possibly be an X-linked dominant disorder), therefore, mainly males are affected, although females may have a milder manifestation of some of the features. It is caused by mutations in a gene called "faciogenital dysplasia" ( FGDY1) found on the X chromosome.

Symptoms include:

• mild to moderate short stature which may not be obvious until the child is between 1 and 3 years old
• possible delayed sexual maturation
• rounded face
• hairline has a "widow's peak"
• wide set eyes with droopy eyelids
• small nose with nostrils tipped forward
• underdeveloped mid-portion of the face
• wide groove above the upper lip, crease below the lower lip
• delayed eruption of teeth
• top portion of the ear folded over slightly
• small, broad hands and feet with short fingers and in-curving 5th finger
• short fingers and toes with mild webbing
• simian crease (single) in palm of hand
• protruding belly button
• inguinal hernias
• "shawl" scrotum, undescended testicles
• mild to moderate mental deficiency
• eyes have downward palpebral slant
• pectus excavatum (mildly sunken chest)

There are a number of other names for Aarskog syndrome:

• AAS
• Faciodigitogenital Syndrome
• Faciogenital Dysplasia
• FGDY
• Aarskog-Scott Syndrome

The best souce of further information on Aarskog is probably:

MAGIC Foundation for Children's Growth
6645 W. North Avenue
Oak Park, IL 60302
Tel: (708)383-0808
Fax: (708)383-0899
Tel: (800)362-4423
Email: mary@magicfoundation.org
Internet: http://www.magicfoundation.org