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Aarskog syndrome

November 01, 2012  by: Adi  Points: 6   Category: Health  Earning $0.13   Views: 492

Aarskog syndrome is an inherited disease that affects a person''''s height, muscles, skeleton, genitals. It also affects the appearance of the face. Inherited means that the disease is passed down from one generation to another within the family.

         

Aarskog syndrome is an inherited disease that affects a person's height, muscles, skeleton, genitals. It also affects the appearance of the face. Inherited means that the disease is passed down from one generation to another within the family. Aarskog syndrome is also known as Facial-digital-genital syndrome.

Causes:

Aarskog syndrome is a genetic disorder which is linked with X chromosome. This syndrome mainly affects males but females are also prone to this syndrome in a milder form. This syndrome is caused due to the changes in a gene called "faciogenital dysplasia" (FGDY1).

Symptoms:

Belly button that sticks out
Bulge in the groin or scrotum (inguinal hernia)
Delayed sexual maturation
Delayed teeth
Downward palpebral slant to eyes
Hairline with a "widow's peak"
Mildly sunken chest (pectus excavatum)
Mild to moderate mental problems
Mild to moderate short stature (which may not be obvious until the child is 1 - 3 years old)
Poorly developed midportion of the face
Rounded face
"Shawl" scrotum, testicles that have not come down (undescended)
Short fingers and toes with mild webbing
Single crease in palm of hand
Small, broad hands and feet with short fingers and curved-in fifth finger
Small nose with nostrils tipped forward
Top portion of the ear folded over slightly
Wide groove above the upper lip, crease below the lower lip
Wide-set eyes with droopy eyelids

Tests:

* Genetic tests done to find out mutations in the gene "faciogenital dysplasia" (FGDY1).
* X-rays

Treatment:

In persons having abnormal facial features, moving the teeth (orthodontic treatment) may be done.

Complications:

Cystic changes in the brain
Difficulty growing in the first year of life
Poorly aligned teeth
Seizures
Undescended testicle




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