Trichorhinophalangeal Syndrome with Exostoses, often abbreviated as TRPS with Exostoses, is a rare genetic disorder characterized by the presence of abnormal hair, facial features, and bone growths. It is a sub-type of Trichorhinophalangeal Syndrome, a broader spectrum disorder that encompasses multiple variants.
Individuals with TRPS with Exostoses usually exhibit several distinct physical traits. First, they have sparse, fine hair that grows slowly and may have a thinning appearance. Secondly, facial abnormalities are commonly seen, including a prominent nose with a bulbous tip and a thin upper lip. Additionally, affected individuals may have developmental delays in speech and motor skills.
Exostoses, or bony growths, are a distinguishing feature of TRPS with Exostoses. These growths typically occur on the long bones of the arms and legs, particularly around the knees and elbows. These bony protrusions may vary in size and number and can cause physical discomfort and limited joint mobility.
TRPS with Exostoses is caused by mutations in the TRPS1 gene, which plays a crucial role in the development of bone and hair follicles. This gene mutation is inherited in an autosomal dominant manner, meaning that an affected individual has a 50% chance of passing on the disorder to each of their children.
Treatment for TRPS with Exostoses focuses on managing the specific symptoms and may involve a multidisciplinary approach. This can include regular monitoring and management of bone exostoses, physical therapy to improve mobility, speech therapy for language difficulties, and psychological support for any emotional or behavioral challenges that may arise.
