What is Trichorhinophalangeal Syndrome

Trichorhinophalangeal Syndrome (TRPS) is a rare genetic disorder that affects multiple parts of the body. It is characterized by distinctive facial features, abnormalities in hair growth, and skeletal abnormalities.

Individuals with TRPS typically have thin, sparse hair, especially on the scalp, eyebrows, and eyelashes. They may also have a short, upturned nose, a long philtrum (the area between the nose and upper lip), and a thin upper lip. Additionally, TRPS can cause skeletal abnormalities such as short stature, cone-shaped epiphyses (the ends of long bones), and joint deformities.

TRPS is caused by mutations in the TRPS1 gene, which plays a role in the development and maintenance of various tissues in the body. It is inherited in an autosomal dominant pattern, meaning that a person only needs to inherit one copy of the mutated gene from either parent to develop the condition.

While there is no cure for TRPS, treatment focuses on managing the symptoms and improving quality of life. This may involve physical therapy, orthopedic interventions, and regular monitoring of growth and development.