Know more about Aarskog syndrome


Aarskog syndrome is an inherited disease. It is a rare genetic disorder. It is also known as Aarskog-scott syndrome, Faciodigitogenetal syndrome,Shawl scrotum syndrome and faciogenital dysplasia. It affects a person’s height, muscles, skeleton, genitrials and facial appearance. The most important characteristics of this disease are short stature, facial abnormalities, and hand and foot abnormalities. Usually male children are affected by this disease; females may have mild manifestations of the syndrome.


The most important symptoms are slow maturation from 3 years onwards, delayed teeth and dental abnormalities, changes in face, round face top with broad forehead, growth of hair into the middle of the forehead, small slightly folded ears, broad hands with short fingers, short toes and the foot is often bent inward at its middle portion, small nose, short neck, enlarged cornea, increased space between eyes, wide mouth and small chin, mild mental retardation. All the joints may be usually loose.


The cause of this Syndrome is genetic irregularities and disorders. This syndrome is mainly affects male. Aarsok syndrome is caused by changes in gene called ”Faciogenital dysplasia”. It is caused by abnormalities in a gene called FGDY1 found on the X chromosome. Which is transferred from mothers to male children.


There is no permanent cure for Aarskog Syndrome. Surgery and Physiotherapic treatment is available for this disease. Orthodontic treatment (Moving the teeth) is another treatment for Aarskog syndrome. This may help to cure certain facial and dental abnormalities. Another treatment is supportive treatment; this includes educational assistance for mentally disabled patients and also counseling for their parents.


Prenatal testing is the most important preventive method. If a person have Aarskog syndrome or have a family history of disorder, must consult a genetic counselor when decided to have children.

Alternative Therapy:

Growth –promoting therapy, using growth hormone is alternative therapy for Aarskog syndrome. Estrogen replacement therapy is another method. It seems to be essential to start estrogen at a safe bone age (above 13 years) in very low doses.


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