Trichorhinophalangeal Syndrome Type III / Disease

Diseases & Conditions

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Trichorhinophalangeal Syndrome Type III

Synonyms of Trichorhinophalangeal Syndrome Type III

Sugio-Kajii Syndrome
TRPS3

Disorder Subdivisions

General Discussion
Trichorhinophalangeal syndrome type III (TRPS3), also known as Sugio-Kajii syndrome, is an extremely rare inherited multisystem disorder. TRPS3 is characterized by fine, thin light-colored 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 pear-shaped or rounded (bulbous) nose; an abnormally long prominent groove (philtrum) in the upper lip; and/or abnormalities such as delayed eruption of teeth. In addition, affected individuals also exhibit severe shortening of the fingers and toes (brachydactyly) due to improper development of bones in the hands and feet (metacarpophalangeal shortening). Additional features often include short stature (dwarfism) and/or additional skeletal abnormalities. The range and severity of symptoms may vary from case to case. TRPS3 is thought to have autosomal dominant inheritance.

Organizations related to Trichorhinophalangeal Syndrome Type III

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
March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains NY 10605
Phone #: 914-428-7100
800 #: 888-663-4637
e-mail: [email protected]
Home page: http://www.marchofdimes.com
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
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