Tricho-rhino-phalangeal syndrome Type 1

Tricho-rhino-phalangeal syndrome Type 1 (TRPS1) is a rare genetic disorder characterized by distinctive craniofacial and skeletal abnormalities. Patients with TRPS1 typically present with sparse scalp hair (trichorrhexis), a bulbous nose, long flat philtrum, thin upper lip, and cone-shaped epiphyses leading to shortening of the phalanges, the bones in the fingers and toes. This condition is also associated with short stature and various degrees of intellectual disability.

Etiology

TRPS1 is caused by mutations in the TRPS1 gene located on chromosome 8 (8q24.12). This gene plays a crucial role in the development and differentiation of various tissues, including bone and hair follicles. Mutations in the TRPS1 gene lead to the production of a dysfunctional protein that disrupts normal development, resulting in the characteristic features of the syndrome.

Clinical Features

The clinical manifestations of TRPS1 can vary significantly among affected individuals but generally include:

• Craniofacial Features: Sparse scalp hair, a bulbous tip of the nose, a long flat philtrum, and a thin upper lip.
• Skeletal Abnormalities: Short stature, cone-shaped epiphyses of the phalanges, and hip malformations.
• Dental Anomalies: Delayed eruption of teeth and malocclusion.
• Intellectual Disability: Varies from none to mild or moderate.

Diagnosis

Diagnosis of TRPS1 is primarily based on clinical evaluation and the characteristic physical findings. Genetic testing can confirm the diagnosis by identifying a mutation in the TRPS1 gene. Radiographic imaging may reveal cone-shaped epiphyses and other skeletal abnormalities that support the diagnosis.

Management

There is no cure for TRPS1, and management focuses on treating the symptoms and improving the quality of life for affected individuals. This may include:

• Orthopedic Interventions: To address skeletal abnormalities and improve mobility.
• Dental Care: To manage dental anomalies and improve oral health.
• Hair Care: Specialized care and treatments for hair abnormalities.
• Educational Support: For those with intellectual disabilities.

Prognosis

The prognosis for individuals with TRPS1 varies depending on the severity of the symptoms. With appropriate management, most individuals can lead a normal life, although they may face challenges related to their physical and, in some cases, intellectual disabilities.

Epidemiology

TRPS1 is a rare disorder, with an estimated prevalence of less than 1 in 1,000,000 live births worldwide. It affects males and females equally.

See Also

• Genetic disorder
• Chromosome 8
• Intellectual disability
• Skeletal dysplasia

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