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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Aarskog syndrome


Other Names for this Disease
  • Aarskog disease
  • Aarskog Scott syndrome
  • Faciodigitogenital syndrome
  • Faciogenital dysplasia
  • FGDY
More Names
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Overview



What is Aarskog syndrome?

How is Aarskog syndrome inherited?


What is Aarskog syndrome?

Aarskog syndrome is an inherited disease that affects a person's height, muscles, skeleton, genitals, and appearance of the face.[1] Intellectual development may also be affected. About 20 percent of people with Aarskog-Scott syndrome have mutations in the FGD1 gene. The cause in other affected individuals is unknown. The condition is inherited in an X-linked recessive pattern.[1][2]
Last updated: 9/7/2011

How is Aarskog syndrome inherited?

Aarskog syndrome is inherited in an X-linked recessive pattern. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), a mutation would have to occur in both copies of the gene to cause Aarskog syndrome. Because it is unlikely that females will have two altered copies of this gene, males are affected by X-linked recessive disorders much more frequently than females. X-linked recessive conditions are unique in that fathers cannot pass X-linked traits to their sons and all daughters of an affected male will be carriers.[2]
Last updated: 9/7/2011

References
  1. Aarskog syndrome. MedlinePlus. 2010; http://www.nlm.nih.gov/medlineplus/ency/article/001654.htm. Accessed 9/7/2011.
  2. Aarskog-Scott syndrome. Genetics Home Reference (GHR). 2008; http://ghr.nlm.nih.gov/condition/aarskog-scott-syndrome. Accessed 9/7/2011.