Fountain syndrome
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.
Cause[edit | edit source]
The exact cause of the disorder is unknown, but it is believed to be inherited in an autosomal recessive manner.[1]
Diagnosis[edit | edit source]
Fountain syndrome is usually diagnosed in infancy or early childhood. It can be diagnosed by thorough clinical evaluation, characteristic physical findings, and specialized tests such as audiological tests and scans of the inner ear and brain.[2]
Treatment[edit | edit source]
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.[citation needed]
References[edit | edit source]
- ↑ "Fountain Syndrome". NORD (National Organization for Rare Disorders). Retrieved 2019-10-20.
- ↑ "Fountain Syndrome". NORD (National Organization for Rare Disorders). Retrieved 2019-10-20.
- Dunkle Mary (1996). "Fountain Syndrome". NORD. Retrieved 26 April 2012.
- "Fountain syndrome". Ailments.com. 2000. Retrieved 29 April 2012.
- "Children's Health:Fountain syndrome". WebMD. 2011. Retrieved 30 April 2012.
External links[edit | edit source]
| Classification | |
|---|---|
| External resources |
Navigation: Wellness - Encyclopedia - Health topics - Disease Index - Drugs - World Directory - Gray's Anatomy - Keto diet - Recipes
Search WikiMD
Ad.Tired of being Overweight? Try W8MD's physician weight loss program.
Semaglutide (Ozempic / Wegovy and Tirzepatide (Mounjaro) available.
Advertise on WikiMD
WikiMD is not a substitute for professional medical advice. See full disclaimer.
Credits:Most images are courtesy of Wikimedia commons, and templates Wikipedia, licensed under CC BY SA or similar.Contributors: Prab R. Tumpati, MD
