National Organization for Rare Disorders, Inc.
- Mental Retardation-Deafness-Skeletal Abnormalit.-Coarse Face with Full Lips
Fountain syndrome is an extremely rare inherited disorder that is characterized by mental retardation; 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. Fountain syndrome is inherited as an autosomal recessive trait.
American Speech-Language-Hearing Association
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NIH/National Institute of Arthritis and Musculoskeletal and Skin Diseases
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NIH/National Institute on Deafness and Other Communication Disorders
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Genetic and Rare Diseases (GARD) Information Center
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Gaithersburg, MD 20898-8126
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Last Updated: 3/28/2008
Copyright 1996, 2003 National Organization for Rare Disorders, Inc.
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