Aarskog Syndrome is an inherited disorder; a family history of the Aarskog Syndrome increases the risk.
It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases ones chances of getting a condition compared to an individual without the risk factors. Some risk factors are more important than others.
Also, not having a risk factor does not mean that an individual will not get the condition. It is always important to discuss the effect of risk factors with your healthcare provider.
Aarskog Syndrome is an X-linked inherited disorder, caused by a genetic mutation in a gene called FGDY1 (Fascial Genital Dysplasia 1).
There are variety of signs and symptoms that are characteristic of Aarskog Syndrome. Individuals diagnosed with the condition have delayed growth spurts (periods of rapid increase in baby growth – in height/weight) and delayed developmental milestones. These milestones are evident by the time the child is 3 years of age.
Decreased mental function is also associated with some cases of Aarskog Syndrome. There is a higher incidence of hyperactivity and attention deficit disorder, among these individuals.
Other signs and symptoms of AAS include:
A diagnosis for Aarskog Syndrome includes evaluating the clinical history and a thorough family medical history. Other methods to help diagnose AAS include:
Many clinical conditions may have similar signs and symptoms. Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis.
Complications of Aarskog Syndrome include:
Aarskog Syndrome is a clinical condition that cannot be prevented. But, careful genetic counseling of family members of individuals, diagnosed with the disorder can help reduce the risk.
The prognosis of Aarskog Syndrome depends on the severity of the signs and symptoms. Generally, the affected individuals are able to manage their life and adapt themselves into the society, without any major problems.
Aarskog Syndrome is an X-linked chromosomal inheritance; male children of female carriers, have a 50% risk of inheriting the syndrome. Also, female children of female carriers, have a 50% risk of being a carrier.
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