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Trichorhinophalangeal Syndrome
Mario Vaccaro1, Georgi Tchernev2, Uwe Wollina3
1Universita degli Studi di Messina, Policlinico Universitario, Via Consolare Valeria, Messina, Sicilia 98125, Italy.
Trichorhinophalangeal syndrome (TRPS) encompasses three rare congenital disorders affecting facial and skeletal development. Diagnosis relies on clinical, radiological, and genetic analyses, identifying hallmark features like alopecia and specific structural abnormalities.
Area of Science:
- Genetics
- Pediatrics
- Medical Genetics
Background:
- Trichorhinophalangeal syndrome (TRPS) is a group of rare genetic disorders.
- TRPS is characterized by distinctive craniofacial and skeletal abnormalities.
- Three types of TRPS exist, with varying genetic transmission patterns (autosomal dominant or sporadic).
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