Aarskog Syndrome

Aarskog Syndrome – An Inherited Disease

Aarskog syndrome an inherited disease affects the person’s height, skeleton, muscles, genitals and the appearance of the face. It is a rare genetic disorder which is linked to the X chromosome and affects mainly males, though females tend to have a milder form.

The condition is due to the changes in a gene known as faciogenital dysplasia or FGD1. It is linked to the X chromosome which is passed down from parents to their children. The symptoms tend to become obvious by the age of 3. Two factors could increase the likelihood of getting Aarskog syndrome, namely gender and genetic makeup.

 If the child is a male, he would be more likely to develop this disorder since he has only one X chromosome. If a mother is a carrier of the defective gene for Aarskog syndrome, there is an increased risk of the child developing this disease.

Aarskog syndrome tends to affect four main areas of a child’s anatomy, such as the facial features, muscle and bone structure, genitalia and the brain. If a child suffering from this disorder may have typical facial features which could include – a widow’s peak hairline, unusually broad or small nose, forward slanting nostrils, round face, wide set eye, wide indention above the upper lips, sagging eyelids, ears which fold down at the top and delayed growth of teeth

Signs & Symptoms

With regards to muscle and bone structure, the disorder could be mildly to moderately malformed and the signs could include, an indented chest, short stature, webbed toes and finger, short toes and finger, one crease in the palms of the hand and curled pinky fingers.

In genital malformations, a typical genital formation and development seems to be a common sign of this disorder which may include a lump in the scrotum or groin which is also known as a hernia. Aarskog syndrome could also cause mild to moderate mental deficits which may include – slow cognitive performance, delayed cognitive development and attention deficit disorder.

Additional signs may occur less often which may include heart defect, abnormal side-to-side curvature of the spine, additional pairs of ribs. Additional eye abnormalities could be present like crossed eye, farsightedness and paralysis of certain eye muscles.

Treatment Limited to Correcting Abnormalities

There is no cure unfortunately for Aarskog syndromeand treatment is limited to correcting the abnormalities in the child’s bones, teeth and tissue. Treatment may probably include surgical procedures like, orthodontic and dental surgery to set right skewed teeth and abnormal bone structure, hernia repair surgery to take out a scrotum or groin lump.

Other treatment may include supportive assistance for development and cognitive delays. Should the child be diagnosed with attention deficit disorder, the assistance of a psychiatric may be needed to solve the issue. A counsellor or a behavioural specialist could guide the parenting skills and the strategies in supporting the child’s need.

Unfortunately, there is no known way of preventing Aarskog syndrome but a women could undergo genetic testing in determining whether she is a carrier of mutate FGDI gene. If genetic testing indicates that she is a carrier of this mutate gene, she could weigh the risk of choosing whether to have children or not.