Fountain Syndrome

Abstract

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Synonyms of Fountain Syndrome

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

Disorder Subdivisions

• No subdivisions found.

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.

Organizations related to Fountain Syndrome

(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.].)

• American Speech-Language-Hearing Association
  • 2200 Research Boulevard
  • Rockville, MD 20850-3289 United States
  • Phone #: 301-296-5700
  • 800 #: 800-638-8255
  • e-mail: actioncenter@asha.org
  • Home page: http://www.asha.org
• Epilepsy Foundation
  • 8301 Professional Place
  • Landover, MD 20785-7223
  • Phone #: 866-330-2718
  • 800 #: 800-332-1000
  • e-mail: ContactUs@efa.org
  • Home page: http://www.epilepsyfoundation.org
• Genetic and Rare Diseases (GARD) Information Center
  • PO Box 8126
  • Gaithersburg, MD 20898-8126
  • Phone #: 301-251-4925
  • 800 #: 888-205-2311
  • e-mail: N/A
  • Home page: http://rarediseases.info.nih.gov/GARD/
• NIH/National Institute of Arthritis and Musculoskeletal and Skin Diseases
  • Information Clearinghouse
  • One AMS Circle
  • Bethesda, MD 20892-3675 USA
  • Phone #: 301-495-4484
  • 800 #: 877-226-4267
  • e-mail: NIAMSinfo@mail.nih.gov
  • Home page: 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
  • Phone #: 301-402-0900
  • 800 #: 800-241-1044
  • e-mail: nidcdinfo@nidcd.nih.gov
  • Home page: http://www.nidcd.nih.gov

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