Treacher Collins syndrome
Treacher Collins syndrome (pronounced: /ˈtriːtʃər ˈkɒlɪnz sɪnˈdroʊm/), also known as mandibulofacial dysostosis (pronounced: /ˌmandɪbʊloʊˈfeɪʃəl dɪsˈoʊsɪs/), is a rare genetic disorder characterized by craniofacial deformities. The syndrome is named after Edward Treacher Collins, the British ophthalmologist who first described its symptoms in 1900.
Etymology
The term "Treacher Collins syndrome" is derived from the name of its identifier, Edward Treacher Collins. The term "mandibulofacial dysostosis" comes from the Latin words mandibula meaning "jaw", facies meaning "face", and dysostosis meaning "abnormal bone formation".
Symptoms
The symptoms of Treacher Collins syndrome can vary greatly among individuals. Common symptoms include micrognathia (small lower jaw), microtia (small or absent ears), coloboma (notches in the lower eyelids), and hearing loss due to malformations of the middle and inner ear.
Causes
Treacher Collins syndrome is caused by mutations in the TCOF1, POLR1C, or POLR1D genes. These genes are involved in early facial development, and mutations can disrupt normal bone and tissue formation.
Diagnosis
Diagnosis of Treacher Collins syndrome is typically based on a clinical evaluation, detailed patient history, and identification of characteristic physical findings. Genetic testing can confirm the diagnosis.
Treatment
Treatment for Treacher Collins syndrome is symptomatic and supportive, often involving a team of specialists. Interventions may include reconstructive surgery, speech therapy, and hearing aids.
Related Terms
- Craniofacial
- Genetic disorder
- Mutation
- Gene
- Genetic testing
- Reconstructive surgery
- Speech therapy
- Hearing aids
External links
- Medical encyclopedia article on Treacher Collins syndrome
- Wikipedia's article - Treacher Collins syndrome
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