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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.