Rare Genetic Diseases an Overview of Aarskog Syndrome

Dagfinn Aarskog is a Norwegian pediatrician and a geneticist who described a syndrome characterized by short stature and abnormalities related to facial, genital and skeletal systems. The syndrome is considered to be a rare genetic disease and had been found to inherit as an x—linked recessive disorder. As a note of respect to the person who discovered this rare genetic disease, it was given the name Aarskog syndrome, although there are several other synonyms including faciodigitogenital syndrome, shawl scrotum syndrome, faciogenital dysplasia and Aarskog-scott syndrome used to describe the same genetic disease.

What causes Aarskog syndrome?

According to genetic researchers, the underlying cause for this disease is a mutation taking place in the FDGY1 gene located in the X chromosome. Thus, 50% of the female children born to an affected mother will become carriers while 50% of the sons of such mothers will be affected by the disease. However, the manifestations among women seem to be milder when considering the manifestations in their male counterparts.

What are the clinical manifestations of this syndrome?

As mentioned earlier, there can be multiple congenital malformations related to this disease and it can overlap with several other genetically inherited diseases such as the fetal alcohol syndrome and Turner syndrome. The manifestations may vary with the child’s age and post-puberal manifestations may be rather mild than the pre-puberal manifestations.

Some of the main visible manifestations of Aarskog syndrome can include, short stature, hypertelorism (increased distance between two organs, mainly between the eyes), downslanting palpebral fissures, anteverted nostrils, joint laxity and shawl scrotum. The short stature may become apparent at the age of 1 – 3 years and there may also be a delay in the adolescent growth spurt in contrast to a normal growth spurt of a child.

Un-descended testes may also be present in these children while inguinal hernias, which are normally seen in the adult population, could be apparent in certain children. A sunken chest and webbing on either side of the neck would also be present while the presence of a short neck will make the child’s appearance much similar to a patient with Turners syndrome.

These children may also show mild to moderate mental slowness or retardation while their social behaviors remain normal. At the same time, these children are more vulnerable to be hyperactive and will show attention deficit in some instances.

What are the treatment strategies available for Aarskog syndrome?

Although there is no specific treatment to prevent or to cure this disease, there are many medical, surgical and social interventions that need to be done in order to improve the quality of life of these patients.

Surgical correction of certain defects such as un-descended testes can be performed while orthodontic procedures may help correct certain facial and dental abnormalities. Furthermore, psychological support as well as tender loving care should help these children adapt and live a near normal life which will be full of challenges as they grow.