Aarskog syndrome is a disease which is hereditary and can be passed down generations in a family. This affects the appearance, genitals, skeleton, muscles and height of the person. This syndrome is also referred to as facio genital dysplasia, shawl scrotum syndrome and Aarskog-Scott syndrome. This is a genetic disorder which affects mostly males, while females may be affected in a milder way. This is a condition which is brought on because of mutation in a gene which is the FGDY1 or “faciogenital dysplasia”.

Causes, incidence, and risk factors

This syndrome is passed on in a manner which is described as X linked, which means that there is a 50% chance that female carriers can pass this disease onto the sons, while the daughters have a similar chance of themselves being carriers.

Symptoms

Parents should consult their pediatricians if they find the growth of their child stunted or any of the features of this disease.

Signs and tests

The growth of the child will be stunted and this will be noticeable by the time the child is between 1 to 3 years old. Even adolescent growth which is normally a sudden spurt, will show delay. The features will have some definite appearance factors like:

The face will be round with wide set eyes which are slanting downwards and droopy eyelids. he hairline will have a widow’s peak and the upper part of the ear is usually folded; the nose is anteverted and small and the nostrils are tipped front wards; The middle part of the face is usually underdeveloped and the upper lip has a wide groove above it while the lower lip has a crease under it and the teeth erupt late.

The feet and hands are small and broad with short toes and fingers while the big toes and thumbs are broad; the fifth finger is curved inwards and there is also mild webbing in between the toes and the fingers; the palm has a single simian crease.

The Neck has webbing on the sides and is short. The other features of those who have this disease are a sunken chest, the abdomen has a navel which is protruding and the testicles are undescended with a shawl scrotum. There could be a bulge in the scrotum or groin and sexual maturity is delayed in such persons.

Tests involve x-rays and genetic testing which will show the mutations in the FGDY1 gene.

Treatment

The abnormalities of the face can be treated with orthodontic treatment to make some of the features more normal. Unfortunately growth hormones have had no effect on the short stature of such persons.

Treatment centers

More than treatment centre’s there are support groups which help parents to cope with children who are affected with Aarskog syndrome. Some of the support groups and treatment centers are:1.

1. Aarskog Syndrome Parents Support
2. Henry Ford Medical Centre
3. The Magic Foundation for children’s growth

Expectations (prognosis)

Though the child may be socially quite good in its performance, there will be a mental insufficiency of a moderate level and the child will also be hyperactive but attention deficit. The fertility in males is reduced.

Complications

Some of the complications which parents should be forewarned about are undescended testicles, seizures, teeth that are not aligned properly, deficit growth in the early years and cystic changes in the brain.

Calling your health care provider

If the child shows any of the symptoms mentioned here and has stunted growth during the first year to the third year your health care provider should be called. You could look for counseling if there has been any incidence of Aarskog syndrome in the past in the family. In case the doctor feels that the child may have Aarskog syndrome a genetic specialist should be consulted.

Prevention

For those who have a family history of Aarskog syndrome it is better to have prenatal testing to see if the fetus has any such problem.