Tricho–rhino–phalangeal syndrome

Tricho–rhino–phalangeal syndrome (TRPS) is a rare genetic disorder characterized by distinctive craniofacial and skeletal abnormalities. The syndrome is named for the three areas of the body that are most affected: the hair (trich-), nose (rhino-), and fingers (phalangeal).

Symptoms and Signs

The most common features of TRPS include slow-growing, sparse hair with a peak at the forehead (widow's peak), a bulbous tip of the nose, and cone-shaped epiphyses (the ends of the long bones). Other features can include a long, flat area between the nose and the upper lip (philtrum), a thin upper lip, and a low-hanging columella (the tissue that separates the nostrils).

Genetics

TRPS is caused by mutations in the TRPS1 gene. This gene provides instructions for making a protein that regulates the activity of other genes. The TRPS1 protein is involved in the development of bones and other tissues.

Diagnosis

Diagnosis of TRPS is based on clinical examination and can be confirmed by genetic testing for mutations in the TRPS1 gene.

Treatment

There is no cure for TRPS, but treatment is aimed at managing the symptoms. This can include physiotherapy for joint problems, speech therapy for speech difficulties, and cosmetic surgery for craniofacial abnormalities.

Epidemiology

TRPS is a rare disorder, with an estimated prevalence of 1 in 1,000,000 individuals. It affects both males and females equally.

See Also

• Genetic disorder
• TRPS1
• Epiphyses
• Philtrum
• Columella

NIH genetic and rare disease info

• NIH info on Tricho–rhino–phalangeal syndrome

Tricho–rhino–phalangeal syndrome is a rare disease.

Tricho–rhino–phalangeal syndrome Resources
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