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Home > Aarskog syndrome

Aarskog syndrome is an x-linked recessive genetic disorder. This disorder affects mainly males, although females may have a milder manifestation of some of the features. It is caused by mutations in a gene called FGDY1 found on the X chromosome.

1 Symptoms

• 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)

2 Signs and tests

X-rays will reveal skeletal abnormalities. Genetic testing may be available for mutations in the FGDY1 gene.

3 Treatment

4 Support Groups

The MAGIC Foundation for Children's Growth is a support group for Aarskog syndrome and can be found at www.magicfoundation.org.

5 Prognosis

Mild degrees of mental slowness may be present, but affected children usually have good social skills. Some males may exhibit reduced fertility.

6 Complications

Some recent findings have included cystic changes in the brain and generalized seizures. There may be difficulty growing in the first year of life in up to one-third of cases. Misaligned teeth may require orthodontic correction. An undescended testicle will require surgery.

Source : http://www.nlm.nih.gov/medlineplus/ency/article/001654.htm

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Topics: Aarskog Syndrome Short Mild Stature Abnormalities Disorder...

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Aarskog syndromeAarskog syndrome is an inherited disease characterized by short stature, facial abnormalities, musculoskeletal, and genital anomalies. Aarskog syndrome is an x-linked recessive genetic disorder. This disorder affects mainly males, although females may hav