Tricho-rhino-phalangeal Syndrome type I
General Description
The following is a general description of Tricho-rhino-phalangeal Syndrome type I (or TRPSI). It is not meant for diagnostic or medical purposes but to provide the general public with an basic understanding of this syndrome.
Introduction
Tricho-rhino-phalangeal Syndrome, type I (TRPSI) is a dominantly inherited disorder affecting seemingly unrelated systems. A dominant disorder is one in which there is generally a 50% chance of an affected parent passing the trait to their offspring and that the sex of the offspring or the affected parent has very little or no bearing on the frequency of transmission. TRPSI is characterized by the following features which are seen in almost all TRPSI cases although the severity of symptoms may vary.
- Cranio-facial abnormalities. These include large, laterally protruding ears, broad nasal bridge and bulbous nose, elongated upper lip with thin upper vermillion border, broad eyebrows, and sparse hair.
- Hand abnormalities. The growing ends of certain bones, particularly in the hands (and toes), are coned shaped and sometimes shortened.
The following characteristics are commonly present, but sometimes absent:
- Shortness of stature.
- Overly flexible joints.
- Excess folds of skin.
- Some rare cases show mental retardation.
- Others. (For a more complete list see NORD LGS or the OMIM clinical synopsis.
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This page last updated 7/98.