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

Mulvihill Smith Syndrome


Synonyms of Mulvihill Smith Syndrome
  • progeriod short stature with pigmented nevi

Disorder Subdivisions



    General Discussion
    Mulvihill-Smith syndrome is an extremely rare disorder characterized by low birth weight; growth delays leading to short stature (dwarfism); and/or a prematurely aged facial appearance. Other findings may include additional abnormalities of the head and facial (craniofacial) areas, multiple deeply-colored skin lesions (pigmented nevi), hearing impairment, and/or mental retardation. Eventually, some affected individuals may develop diminished capabilities to resist and fight off repeated infections (primary immunodeficiency). The range and severity of symptoms varies from case to case. All reported cases of Mulvihill-Smith syndrome have occurred as isolated cases. It is possible that this condition is due to a new dominant gene mutation.
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    Organizations related to Mulvihill Smith Syndrome
    • 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
    • NIH/National Eye Institute
      Building 31 Rm 6A32
      Bethesda MD 20892-2510
      Phone #: 301-496-5248
      800 #: --
      e-mail: 2020@nei.nih.gov
      Home page: http://www.nei.nih.gov/



    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