Aarskog syndrome

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.

Aarskog syndrome mainly affects males, although females may have mild features of the syndrome. Females who carry one altered copy of the FGD1 gene may show signs such as hypertelorism (widely spaced eyes), short stature, or a widow's peak hairline.