Aarskog syndrome is a very rare genetic disorder that primarily affects males, though females can develop a milder version. Caused by a mutation in the X chromosome, it causes abnormalities in stature as well as the development of facial features, muscles, bones, and genitalia. Symptoms typically begin to present fully around the age of three. Individuals with Aarskog syndrome can present with a rounded face and broad forehead. The eyes can be spaced widely apart and slanted downwards. Individuals may have an underdeveloped upper jawbone and a small nose. The lips, teeth, and ears can also display a variety of visible abnormalities. The syndrome is a lifelong condition that does not currently have a cure. However, there are treatment options for those affected by it.
Surgical procedures may be necessary to treat and fix some of the abnormalities and structural or congenital malformations caused by Aarskog syndrome. These abnormalities include hernias, hypospadias, cryptorchidism, and the more severe craniofacial features. Eye and dental examinations should also be undergone to determine if surgical intervention is needed to assist with vision, chewing, eating, and speech problems. Surgically treating a cleft lip is one of the most common interventions with regards to Aarskog syndrome, and surgeries may also be recommended to correct other defects. Intervening surgically will depend entirely on the specific symptoms that present, as well as their degree of severity.
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