Fountain syndrome

Fountain syndrome
Classification and external resources
OMIM	229120

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.

Fountain syndrome has an autosomal recessive pattern of inheritance.

Treatment

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.

Symptoms

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

References

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.
"Fountain syndrome". Aliments.com. 2000. Retrieved 29 April 2012.
"Children's Health:Fountain syndrome". WebMD. 2011. Retrieved 30 April 2012.

External links

Online Mendelian Inheritance in Man (OMIM) 229120

Congenital abnormality syndromes (Q87, 759.7)

Craniofacial

Acrocephalosyndactylia Apert syndrome Carpenter syndrome Pfeiffer syndrome Saethre–Chotzen syndrome Sakati–Nyhan–Tisdale syndrome

other:	Baller–Gerold syndrome Cyclopia Goldenhar syndrome Möbius syndrome

Short stature

Limbs

Adducted thumb syndrome Holt–Oram syndrome Klippel–Trénaunay–Weber syndrome Nail–patella syndrome Rubinstein–Taybi syndrome

Gastrulation/mesoderm:	Caudal regression syndrome Ectromelia Sirenomelia VACTERL association

Overgrowth

Laurence–Moon–Bardet–Biedl

Combined/other,
known locus

2 (Feingold syndrome)
3 (Zimmermann–Laband syndrome)
4/13 (Fraser syndrome)
8 (Branchio-oto-renal syndrome, CHARGE syndrome)
12 (Keutel syndrome, Timothy syndrome)
15 (Marfan syndrome)
19 (Donohue syndrome)
Multiple
- Fryns syndrome

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