Trichorhinophalangeal syndrome type II (TRPS II) is a condition that causes bone and joint malformations; distinctive facial features; intellectual disability; and abnormalities of the skin, hair, teeth, sweat glands, and nails. The name of the condition describes some of the areas of the body that are commonly affected: hair (tricho-), nose (rhino-), and fingers and toes (phalangeal).

TRPS II is caused by the deletion of genetic material on the long arm (q) of chromosome 8. The size of the deletion varies among affected individuals; studies suggest that larger deletions tend to result in a greater number of features than do smaller deletions.

TRPS II is a rare condition; its prevalence is unknown.

Most cases of TRPS II are not inherited, but occur as random events during the formation of reproductive cells (eggs or sperm) in a parent of an affected individual. These cases occur in people with no history of the disorder in their family. In a very small number of cases, people with TRPS II have inherited the chromosomal deletion from a parent with the condition.

Published Date: June 01, 2017
Published By: National Institutes of Health