Treacher Collins Syndrome
Treacher Collins Syndrome (pronounced: TREE-chur KOL-inz SIN-drome) is a rare genetic disorder characterized by deformities of the ears, eyes, cheekbones, and chin. The condition is also known as Mandibulofacial Dysostosis.
Etymology
The syndrome is named after Edward Treacher Collins, the British ophthalmologist who first described its symptoms in 1900.
Symptoms
The symptoms of Treacher Collins Syndrome can vary greatly among individuals. Some common symptoms include:
- Micrognathia: A smaller than normal lower jaw.
- Microtia: A condition where the external ear is underdeveloped.
- Coloboma: A hole in one of the structures of the eye, such as the iris, retina, choroid, or optic disc.
- Choanal Atresia: A condition where the back of the nasal passage is blocked.
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 the normal formation of facial bones and tissues.
Diagnosis
Diagnosis of Treacher Collins Syndrome is typically based on a clinical evaluation, detailed patient history, and specialized tests. Genetic testing can confirm the diagnosis.
Treatment
Treatment for Treacher Collins Syndrome is symptomatic and supportive. It may include reconstructive surgery to correct facial abnormalities, speech therapy, and hearing aids.
Related Terms
- Craniofacial: Pertaining to the skull and face.
- Genetic Disorder: A disease caused by abnormalities in an individual's genetic material.
- Mutation: A change in the DNA sequence that makes up a gene.
External links
- Medical encyclopedia article on Treacher Collins Syndrome
- Wikipedia's article - Treacher Collins Syndrome
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