Fountain Syndrome

Fountain Syndrome

National Organization for Rare Disorders, Inc.

Important

It is possible that the main title of the report Fountain Syndrome is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.

Synonyms

  • Mental Retardation-Deafness-Skeletal Abnormalit.-Coarse Face with Full Lips

Disorder Subdivisions

  • None

General Discussion

Fountain syndrome is an extremely rare inherited disorder that is characterized by mental retardation; 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. Fountain syndrome is inherited as an autosomal recessive trait.

Symptoms

Fountain syndrome is an extremely rare inherited disorder. In all cases reported in the medical literature, affected individuals have exhibited mild to severe mental retardation.



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.



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), short stature, an abnormally large head circumference (macrocephaly), and broad, plump hands.

Causes

Fountain syndrome is as an autosomal recessive trait. 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%.

Affected Populations

Fountain Syndrome is an extremely rare inherited disorder that is believed to affect males and females in equal numbers. However, of the seven cases reported in the medical literature, six affected individuals were male and one was female. Reported cases include three brothers and one sister from one family, two brothers from another, and one male from a third family. Sensorineural deafness associated with Fountain Syndrome may be apparent at birth (congenital). Additional symptoms and physical characteristics that may be associated with the disorder usually become apparent during infancy or early childhood.

Standard Therapies

Diagnosis

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. For example, 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.



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 (hyperkyphosis) 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.



Genetic counseling may also be of benefit for affected individuals and their families. Other treatment is symptomatic and supportive.

Investigational Therapies

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:



Tollfree: (800) 411-1222

TTY: (866) 411-1010

Email: prpl@cc.nih.gov



For information about clinical trials sponsored by private sources, contact:

www.centerwatch.com

References

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.



Buyce ML, ed. Birth Defects Encyclopedia. Dover, MA: Blackwell Scientific Publications; For: The Center for Birth Defects Information Services Inc; 1990:312, 747.



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.



Fryns JP. Fountain's syndrome: mental retardation, sensorineural deafness, skeletal abnormalities, and coarse face with full lips. J Med Genet. 1989;26:722-24.



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.



Fountain RB. Familial bone abnormalities, deaf mutism, mental retardation and skin granuloma. Proc R Soc Med. 1974;67:878-79.

Resources

American Speech-Language-Hearing Association

2200 Research Boulevard

Rockville, MD 20850-3289

United States

Tel: (301)296-5700

Fax: (301)296-8580

Tel: (800)638-8255

Email: actioncenter@asha.org

Internet: http://www.asha.org



Epilepsy Foundation

8301 Professional Place

Landover, MD 20785-7223

Tel: (866)330-2718

Fax: (877)687-4878

Tel: (800)332-1000

TDD: (800)332-2070

Email: ContactUs@efa.org

Internet: http://www.epilepsyfoundation.org



NIH/National Institute of Arthritis and Musculoskeletal and Skin Diseases

Information Clearinghouse

One AMS Circle

Bethesda, MD 20892-3675

USA

Tel: (301)495-4484

Fax: (301)718-6366

Tel: (877)226-4267

TDD: (301)565-2966

Email: NIAMSinfo@mail.nih.gov

Internet: http://www.niams.nih.gov/



NIH/National Institute on Deafness and Other Communication Disorders

31 Center Drive, MSC 2320

Communication Avenue

Bethesda, MD 20892-3456

Tel: (301)402-0900

Fax: (301)907-8830

Tel: (800)241-1044

TDD: (800)241-1105

Email: nidcdinfo@nidcd.nih.gov

Internet: http://www.nidcd.nih.gov



Genetic and Rare Diseases (GARD) Information Center

PO Box 8126

Gaithersburg, MD 20898-8126

Tel: (301)251-4925

Fax: (301)251-4911

Tel: (888)205-2311

TDD: (888)205-3223

Internet: http://rarediseases.info.nih.gov/GARD/



For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders, Inc.® (NORD). Cigna members can access the complete report by logging into myCigna.com. For non-Cigna members, a copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html.

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