Trichorhinophalangeal Syndrome Type 2 Overview
Learn About Trichorhinophalangeal Syndrome Type 2
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.
Wellspace Health
Janine Bera is a Family Medicine specialist and an Internal Medicine provider in Sacramento, California. Dr. Bera has been practicing medicine for over 26 years and is rated as an Experienced provider by MediFind in the treatment of Trichorhinophalangeal Syndrome Type 2. Her top areas of expertise are Familial Hypertension, Hypertension, Glucocorticoid-Remediable Aldosteronism, and Type 2 Diabetes (T2D).
Nadine Yassa is a Pediatric Neurologist and a Sleep Medicine provider in Roseville, California. Dr. Yassa and is rated as an Experienced provider by MediFind in the treatment of Trichorhinophalangeal Syndrome Type 2. Her top areas of expertise are Progressive Myoclonic Epilepsy, Lafora Disease, Unverricht-Lundborg Syndrome, and Dravet Syndrome.
Regents Of The Univ Of Ca
Alain Brassard is a Dermatologist in Sacramento, California. Dr. Brassard and is rated as an Advanced provider by MediFind in the treatment of Trichorhinophalangeal Syndrome Type 2. His top areas of expertise are Pyoderma Gangrenosum, Hidradenitis Suppurativa, Actinic Keratosis, Psoriasis, and Liver Embolization.
Published Date: June 01, 2017
Published By: National Institutes of Health