Trichorhinophalangeal syndrome type II

Trichorhinophalangeal syndrome type II (TRPS II), also known as Langer-Giedion Syndrome, is a rare genetic disorder characterized by distinctive facial features, skeletal abnormalities, and the presence of multiple noncancerous bone growths called exostoses. It is a condition that combines features of Trichorhinophalangeal syndrome type I (TRPS I) and Multiple Exostoses Syndrome. The syndrome is caused by deletions or mutations in the TRPS1 gene located on chromosome 8, which plays a crucial role in the development and growth of bones, hair, and other tissues.

Symptoms and Characteristics

The hallmark features of TRPS II include:

• Facial Features: Individuals with TRPS II often have a pear-shaped nose, a long flat philtrum, and a thin upper lip. Sparse scalp hair, lateral eyebrows, and a high forehead are also common.
• Skeletal Abnormalities: These may include cone-shaped epiphyses at the phalanges, short stature, and skeletal dysplasia. Patients often exhibit shortening of the bones in the hands and feet, leading to distinctive hand and foot shapes.
• Exostoses: Multiple exostoses are a defining feature of TRPS II, distinguishing it from TRPS I. These bone growths can lead to pain, deformity, and limited joint movement.

Genetics

TRPS II is caused by deletions or mutations in the TRPS1 gene on chromosome 8q24.12. The condition is inherited in an autosomal dominant pattern, meaning a single copy of the altered gene in each cell is sufficient to cause the disorder. However, many cases result from new mutations in the gene and occur in people with no history of the disorder in their family.

Diagnosis

Diagnosis of TRPS II is based on clinical examination and the presence of characteristic features. Genetic testing can confirm the diagnosis by identifying mutations or deletions in the TRPS1 gene. Radiographic imaging is used to detect exostoses and other skeletal abnormalities.

Treatment

There is no cure for TRPS II, and treatment focuses on managing symptoms and improving quality of life. Surgical removal of exostoses may be necessary if they cause pain or interfere with function. Orthopedic surgery may also be required to correct skeletal deformities. Physical therapy can help maintain joint mobility and muscle strength. Regular follow-up with a multidisciplinary team is important to monitor growth, development, and the appearance of new symptoms.

Prognosis

The prognosis for individuals with TRPS II varies depending on the severity of symptoms. While the condition does not typically affect cognitive development, physical disabilities can significantly impact quality of life. Early intervention and supportive care can help manage symptoms and improve outcomes.

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