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Aarskog-Scott Syndrome (ASS), a rare developmental genetic disorder, is also known as faciogenital abnormality and is caused by a mutation in the X chromosome. It is mostly associated with males rather than females. This rare condition affects a person’s growth, as well as abnormalities of the genital area, the facial features, muscle, bone, and intellectual development.
The type and extent of abnormality varies between individuals; for example, some may only have irregular facial features and stunted growth while some others may suffer from numerous aberrant aspects, depending on the extent of mutation.
Treatment is provided to improve the quality of life, as there is no permanent cure yet for this syndrome. Usually, symptoms are visible by the time the child is three years old, so treatment is started at this early stage so that patients can achieve a reasonable degree of normality as they grow older. Every patient with Aarskog syndrome needs an individual comprehensive therapy plan for treatment.
The peculiar abnormalities in the patient with their characteristic symptoms require the services of a specialist team of healthcare providers to provide a harmonized treatment.
This is a slow process that involves wearing of braces to shift the poorly arranged teeth into the desired alignment. The treatment procedure is the same as for any other orthodontic patient. Initially, the specialist fabricates the dental brackets according to dental pattern and then attaches the brackets to the teeth. Parents need to take care of their child’s oral hygiene, prevent dental caries with a proper diet, and have regular follow-up with the orthodontist, which is essential. After the teeth attain the proper position, they are further stabilized by retainers that hold the teeth in the altered position.
Genital disorders like inguinal hernia and undescended testicles are treated with the help of surgery.
GH is generally used to enhance the height of a person. Studies reveal that individuals who had ASS, when treated with GH, showed an increase in their height without any side effects. Here, selected doses of GH are administered for a period of six months to two years at specific intervals. However, some patients did not show any improvement in height even after receiving higher doses of GH.
Some persons with ASS have defects in the eyes, which commonly result in strabismus and nystagmus.
Some persons with ASS have a lowered intellectual capacity. Therefore, educational aids are provided to address their difficulties in learning. The aspects in which they have difficulty are reviewed regularly to enhance their mental abilities. Also, parents of the child with ASS are counseled about how to implement supportive treatment at home.