Diseases & Conditions


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Trichorhinophalangeal Syndrome Type I


Synonyms of Trichorhinophalangeal Syndrome Type I
  • TRPS1
  • TRP Syndrome

Disorder Subdivisions



    General Discussion
    Trichorhinophalangeal syndrome type I (TRPS1) is an extremely rare inherited multisystem disorder. TRPS1 is characterized by thin, sparse scalp hair, unusual facial features, abnormalities of the fingers and/or toes, and multiple abnormalities of the growing ends (epiphyses) of the bones (skeletal dysplasia), especially in the hands and feet. Characteristic facial features may include a rounded (bulbous) pear-shaped nose, an abnormally small jaw (micrognathia), dental anomalies, and/or unusually large (prominent) ears. In most cases, the fingers and/or toes may be abnormally short (brachydactyly) and curved. In addition, affected individuals may exhibit short stature. The range and severity of symptoms may vary from case to case. In most cases, Trichorhinophalangeal syndrome type I has autosomal dominant inheritance.

    Organizations related to Trichorhinophalangeal Syndrome Type I
    • Human Growth Foundation
      997 Glen Cove Avenue
      Glen Head NY 11545
      Phone #: 516-671-4041
      800 #: 800-451-6434
      e-mail: hgf1@hgfound.org
      Home page: http://www.hgfound.org/
    • Little People of America, Inc.
      250 El Camino Real
      Tustin CA 92780
      Phone #: 714-368-3689
      800 #: 888-572-2001
      e-mail: info@lpaonline.org
      Home page: http://www.lpaonline.org
    • 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
    • National Foundation for Ectodermal Dysplasias
      410 East Main Street
      Mascoutah IL 62258-0114
      Phone #: 618-566-2020
      800 #: --
      e-mail: info@nfed.org
      Home page: http://www.nfed.org
    • Trichorhinophalangeal Syndrome Association (TRPSA)
      6585 Dawn Way East
      Inver Grove Heights MN 55076
      Phone #: 651-450-0788
      800 #: N/A
      e-mail: trpsa@comcast.net
      Home page: http://www.groups.yahoo.com/group/trpsa



    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