Summary about Disease
Trichorhinophalangeal syndrome (TRPS) is a rare genetic disorder characterized by distinctive facial and skeletal abnormalities. The name reflects the features commonly seen: hair (tricho-), nose (rhino-), and fingers and toes (phalangeal). There are three recognized types: TRPS I, TRPS II (also known as Langer-Giedion syndrome), and TRPS III. TRPS I is the most common form. TRPS II involves additional features like intellectual disability and multiple exostoses. TRPS III has similar features to TRPS I but with more pronounced skeletal abnormalities.
Symptoms
Symptoms vary in severity and can differ between types of TRPS. Common symptoms include:
Hair: Sparse, slow-growing hair.
Nose: Bulbous or pear-shaped nose.
Phalanges: Short fingers and toes, cone-shaped epiphyses (ends of the bones in the fingers), clinodactyly (curved fingers, often the little finger).
Facial Features: Prominent forehead, thin eyebrows, thick nasal alae (wings of the nose).
Skeletal: Short stature, hip abnormalities (e.g., slipped capital femoral epiphysis).
TRPS II-Specific: Intellectual disability, multiple exostoses (bony growths).
Causes
TRPS is caused by mutations in the TRPS1 gene, which is located on chromosome 8q24.12. *TRPS1* is a transcription factor that plays a role in the development of bone, cartilage, hair follicles, and other tissues. In TRPS II (Langer-Giedion syndrome), the condition is caused by a deletion on chromosome 8q24.11-q24.13 that involves the *TRPS1* gene and the *EXT1* gene (responsible for multiple exostoses). TRPS is usually inherited in an autosomal dominant pattern, meaning that one copy of the mutated gene in each cell is sufficient to cause the disorder. However, some cases occur as new (de novo) mutations.
Medicine Used
4. Medicine used There is no specific cure for TRPS. Treatment focuses on managing symptoms and improving quality of life. This can involve:
Orthopedic surgery: To correct hip abnormalities, scoliosis, or other skeletal problems.
Physical therapy: To improve strength, range of motion, and mobility.
Hormone therapy: Growth hormone may be used to treat short stature, but effectiveness varies.
Dermatological treatment: For hair issues and scalp problems.
Pain management: Medications to alleviate pain associated with skeletal problems.
Is Communicable
No, TRPS is not communicable. It is a genetic disorder caused by gene mutations and cannot be spread from person to person.
Precautions
Since TRPS is a genetic condition, there are no environmental precautions to prevent it. Genetic counseling is recommended for families with a history of TRPS who are planning to have children. Regular medical monitoring is essential for individuals with TRPS to manage symptoms and prevent complications.
How long does an outbreak last?
TRPS is not caused by an infection, so the term "outbreak" is not applicable. It is a chronic genetic condition that is present from birth, though some symptoms may evolve or become more apparent over time.
How is it diagnosed?
Diagnosis of TRPS is based on a combination of:
Clinical Examination: Assessment of characteristic facial and skeletal features.
Radiological Studies: X-rays to evaluate bone abnormalities, such as cone-shaped epiphyses, hip abnormalities, or exostoses.
Genetic Testing: Molecular genetic testing to identify mutations in the TRPS1 gene or deletions in the 8q24 region.
Timeline of Symptoms
9. Timeline of symptoms The timeline of symptom onset and progression can vary between individuals with TRPS.
Infancy/Early Childhood: Facial features (e.g., bulbous nose, thin eyebrows), sparse hair, and skeletal abnormalities may be apparent. Short stature might be noticeable.
Childhood/Adolescence: Skeletal problems like hip abnormalities and scoliosis may develop or worsen. The characteristic finger and toe abnormalities are usually evident.
Adulthood: Individuals continue to experience the effects of the condition, and may need ongoing management of skeletal and other issues.
Important Considerations
Genetic Counseling: Essential for families with TRPS.
Multidisciplinary Care: Management requires a team including geneticists, orthopedic surgeons, dermatologists, and other specialists.
Early Intervention: Early diagnosis and management of skeletal problems can improve outcomes.
Psychological Support: The condition can impact self-esteem and quality of life; psychological support and counseling may be beneficial.
Family Support: Support groups and resources can provide information and emotional support.