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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.
139:
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
75:, 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.
130:
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.
382:
282:
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".
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241:"Fountain's syndrome: mental retardation, sensorineural deafness, skeletal abnormalities, and coarse face with full lips"
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Deafness-skeletal dysplasia-coarse face with full lips syndrome, Deafness-skeletal dysplasia-lip granuloma syndrome
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The exact cause of the disorder is unknown, but it is believed to be inherited in an autosomal recessive manner.
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Fountain syndrome has an autosomal recessive pattern of
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186:NORD (National Organization for Rare Disorders)
162:NORD (National Organization for Rare Disorders)
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950:Genetic disorders with OMIM but no gene
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345:"Children's Health:Fountain syndrome"
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449:Online Mendelian Inheritance in Man
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729:Bannayan–Riley–Ruvalcaba syndrome
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536:Bonnet–Dechaume–Blanc syndrome
1:
935:Autosomal recessive disorders
531:Sakati–Nyhan–Tisdale syndrome
769:Tatton-Brown–Rahman syndrome
739:Benign symmetric lipomatosis
945:Syndromes affecting hearing
859:Branchio-oto-renal syndrome
734:Beckwith–Wiedemann syndrome
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831:Zimmermann–Laband syndrome
783:Laurence–Moon–Bardet–Biedl
744:Klippel–Trénaunay syndrome
694:Caudal regression syndrome
669:Klippel–Trénaunay syndrome
631:Smith–Lemli–Opitz syndrome
601:Cornelia de Lange syndrome
679:Rubinstein–Taybi syndrome
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34:
749:Neurofibromatosis type I
636:Snyder–Robinson syndrome
586:1q21.1 deletion syndrome
526:Saethre–Chotzen syndrome
659:Adducted thumb syndrome
621:Silver–Russell syndrome
296:10.1002/ajmg.1320260307
795:Laurence–Moon syndrome
591:Aarskog–Scott syndrome
546:Baller–Gerold syndrome
489:Congenital abnormality
95:This section is empty.
790:Bardet–Biedl syndrome
674:Nail–patella syndrome
566:Pierre Robin sequence
506:Acrocephalosyndactyly
257:10.1136/jmg.26.11.722
721:Overgrowth syndromes
331:. Ailments.com. 2000
311:Dunkle Mary (1996).
204:Fountain RB (1974).
709:VACTERL association
329:"Fountain syndrome"
313:"Fountain Syndrome"
182:"Fountain Syndrome"
158:"Fountain Syndrome"
65:congenital disorder
664:Holt–Oram syndrome
556:Goldenhar syndrome
516:Carpenter syndrome
421:External resources
79:Signs and symptoms
69:mental retardation
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819:Feingold syndrome
606:Dubowitz syndrome
596:Cockayne syndrome
521:Pfeiffer syndrome
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239:Fryns JP (1989).
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67:characterized by
55:Fountain syndrome
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22:Fountain syndrome
16:Medical condition
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903:Donohue syndrome
879:Timothy syndrome
759:Proteus syndrome
754:Perlman syndrome
616:Robinow syndrome
561:Moebius syndrome
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317:. Retrieved
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99:adding to it
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806:known locus
704:Sirenomelia
245:J Med Genet
46:inheritance
27:Other names
929:Categories
699:Ectromelia
191:2019-10-20
167:2019-10-20
144:References
908:Multiple
491:syndromes
135:Treatment
126:Diagnosis
62:recessive
59:autosomal
688:mesoderm
551:Cyclopia
451:(OMIM):
430:Orphanet
351:30 April
335:29 April
319:26 April
106:May 2022
73:deafness
411:C537270
390:: Q87.8
304:3565469
275:2585470
266:1015742
232:4431800
223:1645940
542:Other
453:229120
400:229120
315:. NORD
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57:is an
651:Limbs
118:Cause
435:3219
406:MeSH
395:OMIM
353:2012
337:2012
321:2012
300:PMID
271:PMID
228:PMID
383:ICD
292:doi
261:PMC
253:doi
218:PMC
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Text is available under the Creative Commons Attribution-ShareAlike License. Additional terms may apply.
