Trichorhinophalangeal Syndrome Type II (TRPS II) is a rare genetic disorder that falls under the category of genetic skeletal dysplasias. It is characterized by a combination of specific physical features affecting the hair, nose, and bones of individuals affected by this syndrome.
Individuals with TRPS II often have sparse and curly hair, commonly described as woolly hair. They may also exhibit a distinctive facial appearance, including a prominent and beaked nose, a long philtrum (the groove between the nose and upper lip), and a thin upper lip. Moreover, affected individuals often have cone-shaped epiphyses (the ends of the long bones) and shortened fingers and toes, particularly the middle phalanges.
This syndrome is inherited in an autosomal dominant manner, meaning an individual only needs to receive the mutated gene from one parent to be affected. The specific gene mutation associated with TRPS II has been identified on chromosome 8, affecting the TRPS1 gene.
Aside from the physical traits, individuals with TRPS II may also experience additional health issues, such as restricted joint movement, scoliosis (curvature of the spine), and dental abnormalities. Intellectual disability may be present in some individuals, but the severity varies among affected individuals.
The diagnosis of TRPS II is based on the presence of the characteristic physical features, radiological findings, and genetic testing to confirm the TRPS1 gene mutation.
Management of TRPS II revolves around symptom-specific treatment, including surgical interventions for bone and joint abnormalities, physical therapy to improve joint mobility, and regular monitoring of associated health conditions. Genetic counseling is essential for affected individuals and their families to understand the inheritance pattern and risks for future generations.
