Última actualización:
March 16, 2017
Años publicados: 1996, 2003, 2017
NORD gratefully acknowledges Prof. Dr. Griet Van Buggenhout, MD, PhD,
Clinical Genetics, UZ Leuven, Belgium, for assistance in the preparation of this report.
Fountain syndrome is an extremely rare genetic multisystem disorder that is characterized by intellectual disability; abnormal swelling of the cheeks and lips due to the excessive accumulation of body fluids under the skin (subcutaneous) of the face (edema); skeletal abnormalities; and/or deafness due to malformation of a structure (cochlea) within the inner ear. The exact underlying cause of Fountain syndrome is unknown. The disorder is believed to be inherited as an autosomal recessive trait.
Although researchers have been able to establish a syndrome with characteristic or “core” symptoms, much about the disorder is not fully understood. Several factors including the small number of identified cases, the lack of large clinical studies, and the possibility of other genes influencing the disorder prevent physicians from developing a complete picture of associated symptoms and prognosis.
In all cases reported in the medical literature, affected individuals have exhibited mild to severe intellectual disability. Individuals with Fountain syndrome may also exhibit several physical abnormalities. For example, fluid may abnormally accumulate under the skin (edema) of the face, especially the lips and cheeks. As a result, the face may appear coarse, abnormally «full,» and swollen. These distinctive facial characteristics may be more pronounced with age.
Fountain syndrome may also be characterized by deafness at birth (congenital deafness) due to a defect in a bony spiral organ in the inner ear (cochlea). In this type of deafness, although sound is transmitted normally through the external and middle ear, the cochlear malformation in the inner ear causes the hearing loss (congenital sensorineural deafness). The cochlea normally transforms sound vibrations into nerve impulses that are transmitted to the brain. Because congenital sensorineural deafness results in an inability to hear spoken language, affected infants and children may be unable to develop and comprehend verbal language structure, resulting in an inability to communicate through speech (deaf mutism).
Individuals with Fountain syndrome may also have skeletal abnormalities including abnormal thickening of the cap of the skull (calvaria) and/or unusually broad, short, and stubby hands and feet. In addition, in some cases, affected individuals may exhibit extreme front-to-back curvature of the spine (hyperkyphosis) and/or short stature.
In some cases, individuals with Fountain syndrome may exhibit additional physical abnormalities. For example, during infancy, some individuals may experience episodes of repeated, uncontrolled electrical disturbances involving both sides of the brain (generalized seizures), be below average height for their age (short stature), an abnormally large head circumference (macrocephaly), and broad, plump hands.
The exact underlying cause Fountain syndrome is unknown. The disorder is believed to be inherited in an autosomal recessive manner. Genetic diseases are determined by two genes, one received from the father and one from the mother.
Recessive genetic disorders occur when an individual inherits the same abnormal gene for the same trait from each parent. If an individual receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will not show symptoms. The risk for two carrier parents to both pass the defective gene and, therefore, have an affected child is 25% with each pregnancy. The risk to have a child who is a carrier like the parents is 50% with each pregnancy. The chance for a child to receive normal genes from both parents and be genetically normal for that particular trait is 25%.
Fountain syndrome is an extremely rare inherited disorder that is believed to affect males and females in equal numbers. Only several cases have been reported in the medical literature. The exact incidence or prevalence of the disorder is unknown. Because cases may go undiagnosed or misdiagnosed, determining the true frequency of Fountain syndrome in the general population is difficult.
Fountain syndrome is usually diagnosed during infancy or early childhood, based upon a thorough clinical evaluation, characteristic physical findings, and a variety of specialized tests.
Clinical Testing and Workup
Various audiological tests may be conducted to help assess the nature of the hearing loss, and an X-ray scanning procedure (computerized tomography or CT scan) may be performed to confirm inner ear (i.e., cochlear) malformation as the cause of sensorineural deafness in individuals with Fountain syndrome. During such CT scanning, a computer and X-rays are used to create a film showing cross-sectional images of the structures of the inner ear. X-ray studies may also be used to confirm the presence of certain skeletal abnormalities suspected during clinical observation.
If affected infants experience seizures, a complete neurological evaluation may be conducted including electroencephalography (EEG) and CT scanning. During an EEG, the brain’s electrical impulses are recorded; such studies may reveal brain wave patterns that are characteristic of certain types of seizures. CT scanning may be used to create cross-sectional images of the brain’s tissue structure.
Treatment
The treatment of Fountain syndrome is directed toward the specific symptoms that are apparent in each individual. Treatment may require the efforts of a team of specialists working together to systematically and comprehensively plan an affected child’s treatment. Such specialists may include pediatricians; physicians who diagnose and treat disorders of the ears, nose, and throat (otolaryngologists); specialists who assess and treat hearing problems (audiologists); those who specialize in abnormalities of speech and language development (speech-language pathologists); specialists who diagnose and treat skeletal disorders (orthopedists); neurologists; physical therapists; surgeons; and/or other health care professionals. Genetic counseling may also be of benefit for affected individuals and their families.
Specific therapies for the treatment of Fountain syndrome are symptomatic and supportive. In some cases, various orthopedic techniques may be used to help treat and/or correct skeletal abnormalities associated with Fountain syndrome. For example, extreme front-to-back curvature of the spine (kyphosis) may be treated with a combination of exercises and physical therapy, other supportive techniques, braces, and/or casts.
For individuals with Fountain syndrome who experience generalized infantile seizures, anticonvulsant drug therapy may be prescribed to help prevent, reduce, or control such seizures.
Early intervention is important in ensuring that children with Fountain syndrome reach their potential. Services that may be beneficial may include special remedial education, special services for children with congenital sensorineural deafness and mutism, and other medical, social, and/or vocational services.
Information on current clinical trials is posted on the Internet at www.clinicaltrials.gov. All studies receiving U.S. government funding, and some supported by private industry, are posted on this government web site.
For information about clinical trials being conducted at the NIH Clinical Center in Bethesda, MD, contact the NIH Patient Recruitment Office:
Toll-free: (800) 411-1222
TTY: (866) 411-1010
Email: [email protected]
Some current clinical trials also are posted on the following page on the NORD website:
https://rarediseases.org/living-with-a-rare-disease/find-clinical-trials/
For information about clinical trials sponsored by private sources, in the main, contact:
www.centerwatch.com
For more information about clinical trials conducted in Europe, contact:
https://www.clinicaltrialsregister.eu/
(Please note that some of these organizations may provide information concerning certain conditions potentially associated with this disorder [e.g., mental retardation, deafness, skeletal abnormalities, seizures, etc.].)
TEXTBOOKS
Van Buggenhout GJ, Fryns JP. Fountain Syndrome. In: NORD Guide to Rare Disorders. Lippincott Williams & Wilkins. Philadelphia, PA. 2003:196.
Ballenger JJ, ed. Diseases of the Nose, Throat, Ear, Head & Neck, 14th ed. New York, NY: Lea & Febiger Co; 1991:1048-51.
Gorlin RJ, et al., eds. Syndromes of the Head and Neck, 3rd ed. New York, NY: Oxford University Press; 1990:835, 837.
JOURNAL ARTICLES
Van Buggenhout GJ, et al. Fountain syndrome: further delineation of the clinical syndrome and follow-up data. Genet Couns. 1996;7:177-86. https://www.ncbi.nlm.nih.gov/pubmed/8897038
Fryns JP. Fountain’s syndrome: mental retardation, sensorineural deafness, skeletal abnormalities, and coarse face with full lips. J Med Genet. 1989;26:722-24. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1015742/
Fryns JP, et al. Mental retardation, deafness, skeletal abnormalities, and coarse face with full lips: confirmation of the Fountain syndrome. Am J Med Genet. 1987;26:551-55. https://www.ncbi.nlm.nih.gov/pubmed/3565469
Fountain RB. Familial bone abnormalities, deaf mutism, mental retardation and skin granuloma. Proc R Soc Med. 1974;67:878-79. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1645940/
INTERNET
Van Buggenhout G. Fountain Syndrome. Orphanet Encyclopedia, January 2014. Available at: https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=3219 Accessed on: February 21, 2017.
McKusick VA, ed. Online Mendelian Inheritance in Man (OMIM). Baltimore. MD: The Johns Hopkins University; Entry No:229120; Last Update:02/18/2009. Available at: https://omim.org/entry/229120 Accessed on: February 21, 2017.
NORD y la Fundación MedicAlert se han asociado en un nuevo programa para brindar protección a pacientes con enfermedades raras en situaciones de emergencia.
Aprende más https://rarediseases.org/patient-assistance-programs/medicalert-assistance-program/Asegurarse de que los pacientes y los cuidadores estén equipados con las herramientas que necesitan para vivir su mejor vida mientras manejan su condición rara es una parte vital de la misión de NORD.
Aprende más https://rarediseases.org/patient-assistance-programs/rare-disease-educational-support/Este programa de asistencia, primero en su tipo, está diseñado para los cuidadores de un niño o adulto diagnosticado con un trastorno raro.
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