Trichorhinophalangeal Syndrome Type 1

Trichorhinophalangeal syndrome type 1 (TRPS1) affects the face, bones, and other organs. The features and symptoms of TRPS1 include sparse scalp hair, a rounded nose, a long, flat area between the nose and the upper lip (philtrum), and a thin upper lip. Individuals with this TRPS1 may also have dental abnormalities; short, curved fingers; small hands and feet; and short stature. Overtime, people with TRPS1 can develop brittle bones, joint pain, and arthritis. Some people have heart, kidney, and genitourinary problems. The type and severity of symptoms may vary from person to person. TRPS1 is caused by genetic variants in the TRPS1 gene and is inherited in an autosomal dominant pattern. Diagnosis is based on the symptoms, clinical exam, imaging studies, and may be confirmed by the results of genetic testing. Treatment is focused on managing the symptoms and may include surgery and physical therapy.