Aarskog syndrome is a very rare genetic disorder caused by a mutation on your child’s X-chromosome. This disorder can affect your child’s stature, facial features, genitalia, muscles, and bones. It primarily affects males. However, females may develop a milder version of the disorder. Symptoms usually become apparent by about age 3. Unfortunately, Aarskog syndrome is a lifelong condition without a cure.
Aarskog syndrome is an inherited disorder. It is caused by a mutation on your faciogenital dysplasia gene, or FGD1 gene, which is linked to your X-chromosome. X-chromosomes are passed down from parents to their children. Males have only one X-chromosome, so male children of a woman who carries the genetic defect will likely have Aarskog syndrome.
Females have two X-chromosomes, so if one of their chromosomes carries the defect, their other chromosome will compensate. So, females may be carriers or may develop a milder form of the disorder.
Two factors can increase your child’s likelihood of having Aarskog syndrome: gender and genetic makeup. If your child is male, he is more likely to develop Aarskog syndrome because he has only one X-chromosome. Also, if you, the mother, carry the defective gene for Aarskog syndrome, your child is at an increased risk of developing the disorder.