Friday Facts! Aarskog Syndrome

Welcome to Friday Facts! here on the Knowledge Safari blog. Each week we aim to shine the spotlight on various segments of special needs in order to raise awareness and provide information. Today we focus on Aarskog Syndrome.


Aarskog Syndrome falls under the rare disorder category. It is very rare genetic abnormality which causes various distortions in the physical and mental frame of the human being. It is not noticeable on most people until they reach the age of three. Some common signs of having this rare disorder are broad facial abnormalities, muscoskeletal anomalies, genital irregularities and mental retardation. The cause of this syndrome is the genetic malfunction of chromosomes. It is an x-linked recessive disorder which affects mainly males. However, females may also experience this rare disorder, though with much milder manifestations. It is caused by abnormalities in a gene called FGDY1 which is a component of the X chromosome.

It is regarded as a familial syndrome which affects height and overall body mass of the affected child. Normally, the genetic distortion results to short stature and bulky massive bodies. The facial deformation can be observed through the irregularly round facial shape, broad nasal bridge, stubby nose and anteverted nostrils. Even the genital area of a person with Aarskog is affected direly. The presence of saddlebag or shawl scrotum is always visible on male kids with this disorder. However, this disorder has a limited control over affecting the mind and overall health status of the affected child in the early stages of life. Some though people may experience challenged loco motor capacities and slight retardation. Despite the slightly slower mental capacities of the affected child, it rarely disrupts intellectual growth totally. Females affected by this disorder have been proven to possess great social skills. Affected males on the other hand may have reduced fertility.

As a genetic abnormality, it is not likely to be corrected and removed from the system and therefore, the family gene pool. However, there are certain methods by which manifestations of the disorder can be corrected for the convenience of the affected party. Orthodontic treatment for example, may be used to correct minor facial deformities caused by the syndrome. It also can not be prevented, unless you avoid bearing an offspring from a person with genetic histories of the Aarskog. Nevertheless, pre natal check ups may already deliver you foresight if the fetus may be affected by this genetic disorder.

Various institutions are now doing research on this certain medical topic. Various organizations from all over the world can also be seen doing initiatives to help those who are experiencing this syndrome.

For more information visit: Medline Plus