NORD gratefully acknowledges Prof. Dr. Griet Van Buggenhout, MD, PhD, Clinical Genetics, UZ Leuven, Belgium, for assistance in the preparation of this report.
Fountain syndrome is an extremely rare genetic multisystem disorder that is characterized by intellectual disability; abnormal swelling of the cheeks and lips due to the excessive accumulation of body fluids under the skin (subcutaneous) of the face (edema); skeletal abnormalities; and/or deafness due to malformation of a structure (cochlea) within the inner ear. The exact underlying cause of Fountain syndrome is unknown. The disorder is believed to be inherited as an autosomal recessive trait.
(Please note that some of these organizations may provide information concerning certain conditions potentially associated with this disorder [e.g., mental retardation, deafness, skeletal abnormalities, seizures, etc.].)
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