Definition of Fountain syndrome
Fountain syndrome is an autosomal recessive congenital disorder characterized by intellectual disability, 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.
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Frequently asked questions
What is Fountain syndrome?
Fountain syndrome is an autosomal recessive congenital disorder characterized by intellectual disability, deafness, skeletal abnormalities and a coarse face with full lips.
Sources & credits
- Wikipedia: Fountain syndrome – CC BY-SA 4.0
- Image by en:User:Cburnett – CC BY-SA 3.0