Diseases & Conditions


A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Fountain Syndrome


Synonyms of Fountain Syndrome
  • Mental Retardation-Deafness-Skeletal Abnormalit.-Coarse Face with Full Lips

Disorder Subdivisions



    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.
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    Organizations related to Fountain Syndrome
    • American Speech-Language-Hearing Association
      10801 Rockville Pike
      Rockville MD 20852
      Phone #: 800-321-2742
      800 #: 800-321-2742
      e-mail: actioncenter@asha.org
      Home page: http://www.asha.org
    • Epilepsy Foundation
      4351 Garden City Drive
      Landover MD 20785
      Phone #: 301-459-3700
      800 #: 800-332-1000
      e-mail: postmaster@efa.org
      Home page: http://www.epilepsyfoundation.org
    • NIH/Nat'l Institute on Deafness & Other Communication Disorders Information Clearinghouse
      1 Communication Ave
      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
    • NIH/National Arthritis and Musculoskeletal and Skin Diseases Information Clearinghouse
      1 AMS Circle
      Bethesda MD 20892-3675
      Phone #: 301-495-4484
      800 #: 877-226-4267
      e-mail: NIAMSinfo@mail.nih.gov
      Home page: http://www.niams.nih.gov/Health_Info



    For a Complete Report

    This is an abstract of a report from the National Organization for Rare Disorders, Inc. ? (NORD). 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