| 词条 | Fountain syndrome |
| 释义 |
| synonyms = Deafness-skeletal dysplasia-coarse face with full lips syndrome, Deafness-skeletal dysplasia-lip granuloma syndrome | name = Fountain syndrome | image = autorecessive.svg | caption = Fountain syndrome has an autosomal recessive pattern of inheritance. | | pronounce = | field = | symptoms = | complications = | onset = | duration = | types = | causes = | risks = | diagnosis = | differential = | prevention = | treatment = | medication = | prognosis = | frequency = | deaths = }} 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{{Empty section|date=July 2017}}Diagnosis{{Empty section|date=July 2017}}TreatmentUnfortunately, 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.{{cn|date=November 2017}} References
External links{{Medical resources| DiseasesDB = | ICD10 = Q87.8 | ICD9 = | ICDO = | OMIM = 229120 | MedlinePlus = | eMedicineSubj = | eMedicineTopic = | MeshID = C537270 | Orphanet = 3219 }}
4 : Autosomal recessive disorders|Rare syndromes|Syndromes affecting hearing|Genetic disorders with OMIM but no gene |
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