Definition:
Fountain syndrome is extremely rare. It is a disorder which can be inherited. It is autosomal recessive. It is observed to be more common in men than in women.
Diagnosis:
Diagnosis can be made as early as birth, infancy, or young childhood. Observing a child for generalized seizure attacks, stunned physique (or stature), and disproportional head circumference may lead to an early diagnosis of Fountain syndrome. Clinical evaluations and specialized tests may be undertaken like X-rays, CT scans, EEG, and hearing tests.
Treatment:
Specially tailored treatment programs may be given by doctors per patient need. Consulting doctors with various specializations may prove advantageous. Seek advice from pediatricians, EENT doctors, audiologists, and orthopedists. Physical therapy, brace fittings, hearing aids, and other support aids may be prescribed so that patients can lead a more normal life. Anticonvulsant drugs may be administered to stop seizures.
Symptoms and Signs:
Patients who suffer from Fountain syndrome exhibit a degree of mental retardation (mild to severe). Lips and cheeks experience abnormal swelling. This is because body fluids excessively accumulate under one's skin (subcutaneous) and on the face (edema). Deafness may also be observed at birth (called congenital deafness) as well as skeletal abnormalities like calvaria (thickening of skull cap) and spine curvature (hyperkyphosis).
Causes:
Fountain syndrome is genetic. If a person receives two abnormal genes for one and the same trait from each parent, he will develop a recessive genetic disorder.
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