Trichorhinophalangeal Syndrome Type I / Disease

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: [email protected]
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: [email protected]
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: [email protected]
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: [email protected]
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: [email protected]
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