|Classification and external resources|
Fountain syndrome is an autosomal recessive congenital disorder characterized by mental retardation, deafness, skeletal abnormalities and a coarse face with full lips. The abnormal swelling of the cheeks and lips are due to the excessive accumulation of body fluids under the skin. The deafness is due to malformation of the cochlea structure within the inner ear.
Unfortunately, there is not one specific treatment option that can rid a person of this syndrome. However, there are many routes one can take to make living with this disease a lot easier. For example, there are many treatment programs that doctors can specialize for patients and their needs. Meeting with a doctor is very crucial and these specializations can be very useful. Also, one can seek help from pediatricians, EENT doctors, audiologists, and orthopedists. Brace fittings, hearing aids, and physical therapy can also be pushed by one's doctor, so that a patient can live normally. Additionally, anticonvulsant drugs can be used to stop seizures.
Mental retardation-Mild to severe, swelling of the lips or cheeks, deafness at birth (congenital deafness), calvaria- thickening of the skull cap, Spine curvature- hyperkyphosis
- Fountain RB (1974). "Familial bone abnormalities, deaf mutism, mental retardation and skin granuloma". Proc R Soc Med 67 (9): 878–879. PMC 1645940. PMID 4431800.
- Fryns JP (1989). "Fountain's syndrome: mental retardation, sensorineural deafness, skeletal abnormalities, and coarse face with full lips". J Med Genet 26 (11): 722–724. doi:10.1136/jmg.26.11.722. PMC 1015742. PMID 2585470.
- Fryns JP, Dereymaeker A, Hoefnagels M, Van den Berghe H (1987). "Mental retardation, deafness, skeletal abnormalities, and coarse face with full lips: confirmation of the Fountain syndrome". Am J Med Genet 26 (3): 551–555. doi:10.1002/ajmg.1320260307. PMID 3565469.
- Dunkle Mary (1996). "Fountain Syndrome". NORD. Retrieved 26 April 2012.
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- "Children's Health:Fountain syndrome". WebMD. 2011. Retrieved 30 April 2012.