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Aarskog Syndrome
Wednesday, 09 July 2003
Thursday, 18 November 2004

What

Aarskog syndrome is a rare inherited disorder characterized by short height, muscular and skeletal irregularities, and problems in the genital area. The child is generally in good health and is able to reach developmental milestones (such as talking, walking, etc.) at usually the same time as other children. In some cases, there is a slight delay in motor (body movement) and learning performances.

Who

Aarskog syndrome is an X-linked disorder (the gene responsible for this disorder is found on the X chromosome), therefore it is more common in males. The reason for this is that males have X and Y chromosomes, so they have only one X chromosome. If this X chromosome is defective in any way, the male will develop a disorder linked to that defect. Females who carry the Aarskog gene might experience some minor signs and symptoms because they have one X chromosome with the defective gene, but they will not have the full symptoms of Aarskog because they have a normal X chromosome to offset the defective X chromosome..

Signs and Symptoms

The following is a list of signs and symptoms associated with Aarskog syndrome, noting that a child does not need to have all of them in order to be diagnosed with this disorder:

  • Facial characteristics:
  • broad nasal bridge.
  • small nose with the nostrils tilted forward.
  • rounded face.
  • wide-set eyes with droopy eyelids.
  • underdeveloped middle portion of the face
  • crease below the lower lip, and a wide groove above the upper li
  • delayed tooth development.
  • widow’s peak on the hairline
  • short stature
  • small, broad hands and feet.
  • short fingers and toes, sometimes with mild webbing.
  • mild to moderate learning problems.
  • genital abnormalities.

Possible Causes

Aarskog is a recessive disorder (meaning that both of the parents must pass along the gene to the child) caused by mutations in a gene called FGDY1, which is found on the X chromosome.

Diagnosis

Suspicion of Aarskog syndrome is made by physical examination of the findings listed above. In addition, skeletal X-rays of the child will show a delay in bone aging, meaning that the development of the bones is slower than usual. For example, a 12 year old child might have the bone growth of a 6 year old. Genetic testing may also be available on a research basis to detect mutations in the FGDY1 gene.

Treatment

There is no cure for Aarskog syndrome, but many of the symptoms can be treated. Some of the facial and genital abnormalities can be fixed by surgery. Growth hormone therapy has not been effective at treating the short stature.

Prognosis

Children with Aarskog live healthy lives. Even though there might be some mental impairment in the child, he/she can still function very well. Some males might be infertile.

Connect with other parents

In the spirit of community and support, Madisons Foundation offers the unique service of connecting parents of children with rare diseases. If you would like to be connected to other parents of children with this disease, please fill out this brief form.

Weblinks

Family Village
A good website for families needing help and contact information after their child is diagnosed with Aarskog syndrome.

http://website.lineone.net/~gongex/newpage2.html
A link to the Aarskog syndrome parent support group, which is very helpful for families.

Google Search for Aarskog Syndrome

References and Sources

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