Aarskog Syndrome is a rare disease that is characterized by genetic abnormalities. These genetic abnormalities cause the physical features and the mental capacities of a person to be severely distorted. Usually, this distortion in the features is not apparent until a person is three years old. There are various facial abnormalities. Even the musculoskeletal framework of a person is not normal.
Aarskog Syndrome can cause severe genital anomalies and mental retardation. Since the cause is genetic, this malfunction of the genes is very hard to correct. It is a recessive disorder linked with the chromosome X and therefore mainly affects males. Women do get affected with this disorder. However, their symptoms and distortion are much milder.
Aarskog syndrome is a familial disease that can affect the physical aspects of a person. It has implications on the affected child’s height and weight. The bodies often become bulky though short in stature. The common facial deformities include overt roundedness of the face, abnormally broad nasal bridge. A stubby nose and nostrils that are anteverted are other common defects. Unfortunately, this disease causes the genitals of the affected person to be severely skewed. Male kids who have this disorder often have the appearance of a saddlebag scrotum.
Fortunately, the distortion of the mind is not as severe as the body. Though this syndrome causes severe mental retardation in some children, it generally doesn’t harm the mental state too much. Apart from the physical distortion, this disorder doesn’t have dire repercussions on the overall health of the suffering child. Still there are some who may experience retardation of their locomotor capacities.
The mental capacities could be slower in such children; however, it almost never interferes with their intellectual growth. Strangely, it has been observed that women who suffer from this condition tend to be socially very active and make great social progress in life. On the other hand, the men who have been affected with this disorder tend to either be infertile or may show signs of reduced fertility.
This is a relatively newly discovered disorder and not many studies or research has been done on it. Since this is a genetic condition, this condition cannot be treated. It cannot even be prevented because it remains in the familial gene pool. Orthodontic treatment however can help suppress some of the physical distortions to give cosmetic results. There might be minor corrections on the physical deformities however, there is no permanent treatment or remedy for this disease and neither can this disease be prevented.