Tricho–rhino–phalangeal syndrome type 2

Tricho–rhino–phalangeal syndrome type 2 (also known as TRPS II) is a rare genetic disorder characterized by distinctive facial features, skeletal abnormalities, and slow growth.

Symptoms and Signs

People with TRPS II have distinctive facial features that can include a large nose with a bulbous tip, a long flat area between the nose and the upper lip (philtrum), a thin upper lip, and a protruding lower lip. They may also have sparse scalp hair and eyebrows, and the hair may be unusually coarse.

Skeletal abnormalities associated with TRPS II can include cone-shaped epiphyses in the hands and feet, mild short stature, and a variety of other bone abnormalities.

Causes

TRPS II 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 II is based on the presence of characteristic signs and symptoms. Genetic testing can confirm the diagnosis.

Treatment

Treatment of TRPS II is symptomatic and supportive. Physical therapy and/or corrective surgery may be necessary for some of the bone abnormalities associated with this disorder.

See also

• Tricho–rhino–phalangeal syndrome
• Genetic disorder
• Bone abnormality

External links

• WikiMD: Tricho–rhino–phalangeal syndrome type 2

Tricho–rhino–phalangeal syndrome type 2 Resources
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