There is currently no known cure for Aarskog Scott Syndrome. However, both surgical and non surgical procedures are available to treat many of the conditions caused by the disorder. For example, facial reconstructive procedures can reduce the visible effects of facial abnormalities including blepharoptosis, cleft lip and ocular hypertelorism. Certain facial reconstructive procedures including orbital reconstruction for ocular hypertelorism are often performed more than once between youth and adulthood because conditions worsen with growth. Additionally, orthodontic procedures can treat facial and dental irregularities caused by the disorder, and are often needed. Surgeries can also treat other visible conditions including inguinal hernia and undescended testicles.
Often, children with Aarskog-Scott Syndrome may suffer from mental deficiencies and will need supportive treatment such as educational assistance. However, affected children often maintain good social skills and can live a normal life.
Examples of treatable clinical features of AAS
Strabismus is the misalignment of the eyes. It is usually the result of the muscles of the eyes not matching each other’s movements. Although one eye is usually pointed straight ahead, the other is turned toward a different direction (up, down, pointed out etc.). This condition is what some may refer to as “cross-eyed”. The brain usually forms images by taking information from both eyes and integrating it to make one uniform image. In the case of strabismus, the eyes do not point to the same direction, so the brain receives different images from each eye. This results in the child seeing double vision, and the brain tries to compensate for this over time by ignoring the image received from the misaligned eye. Over time, this can result in loss of depth perception and in some cases, complete loss of vision from the turned eye (6), (7).
Treatment: An ophthalmologist may prescribe patching the affected eye so that the normal eye is forced to work harder and develop normal vision. In some cases, surgery may be needed to make the eye muscles to move in a coordinated fashion. Normal vision is possible with early diagnosis and treatment (6).
Nystagmus is an involuntary “to and fro” movement of the eye, which can occur in any direction (upbeat, downbeat, torsional etc.). Nystagmus can have a number of causes such as disturbances of the visual system, imbalance in the vestibular system and disturbances of the mechanisms that keep the eyes still (8).
Treatment: In some cases, nystagmus is asymptomatic and does not need to be treated. However when objects in the field appear to oscillate (oscillopsia) and result in blurred vision, there are multiple treatment options. Pharmacological treatment, depending on the type of nystagmus can dampen its effects and improve vision. There are several surgical procedures that have been used to treat infantile nystagmus syndrome but their efficacy has not yet been established. Certain forms of nystagmus can be corrected with the use of prescription glasses or contact lenses (9).
Cleft Lip and Cleft palate (picture)(picture)
Cleft lip and Cleft palate are birth defects that affect the upper lip and roof of the mouth (respectively) that occur when the tissue of the palate and the lip do not form properly (10,11). These defects occur early during pregnancy. A cleft lip can range from a small notch on the lip to a split that extended to the base of the nose, and a cleft palate can occur on one or both sides of the palate (11). These defects can lead to a change in the appearance of the face, difficulties during feeding and speech, and ear infections (10).
Treatment: Surgery to close the cleft is performed when the child is between 6 weeks and 9 months old (done before the child is 12 months old so speech can develop properly). Additional surgery may be needed later in life as well as speech therapy and orthodontic treatment (10).
Inguinal Hernia (picture)
A lump in the groin that is caused when a weakness in the belly wall allows contents of the abdomen to be pushed through the inguinal canal (12). This could occur in AAS patients due to a weakness in the abdominal wall. There are usually no symptoms. Some people have discomfort or pain (12).
Treatment: Inguinal hernias are corrected by surgery, in which the bulging tissue is pushed back in. The abdominal wall is strengthened and supported with sutures (stitches), and sometimes mesh (12).