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.
Autosomal Recessive: Autosomal recessive conditions are traits or disorders that occur when two copies of an abnormal gene have been inherited on a non-sex chromosome. If both parents have an autosomal recessive condition, there is a 100% likelihood of passing on the mutated genes to their children. If, however, only one mutant copy of the gene is inherited, the individual will be a carrier of the condition, but will not be present with any symptoms. Children born to two carriers, have a 25% chance of being homozygous dominant (unaffected), a 50% chance of being heterozygous (carrier), and a 25% chance of being homozygous recessive (affected).
The degree of intensity of the condition varies from mild to severe. The classical signs that identify Fountain Syndrome are:
A physical examination of the child is performed, which includes gathering medical information related to family history of Fountain Syndrome. The characteristic features may help a physician suspect the disorder. There are no specially recommended tests for the syndrome.
Some of the diagnostic tests performed 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 that develop due to Fountain Syndrome are usually due to an increased severity of the multiple physical and mental disabilities. The affected individuals are infants and. young children, which further complicates the condition.
Fountain Syndrome is a genetic disorder that cannot be cured. Proper supportive care with symptomatic treatment (and surgical intervention as necessary), and a modified lifestyle, can help manage the disorder to a certain degree. The treatment management measures are undertaken on a case-by-case basis. The measures could include:
Due to the extreme rarity of Fountain Syndrome, presently there are no specific voluntary organizations and support groups for the disorder. However, most non-for-profit groups that provide help, encouragement and understanding to those severely affected with mental and physical deformities, may be approached.
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