Treacher Collins syndrome

From WikiMD.org
Jump to navigation Jump to search

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

External links

Esculaap.svg

This WikiMD dictionary article is a stub. You can help make it a full article.


Languages: - East Asian 中文, 日本, 한국어, South Asian हिन्दी, Urdu, বাংলা, తెలుగు, தமிழ், ಕನ್ನಡ,
Southeast Asian Indonesian, Vietnamese, Thai, မြန်မာဘာသာ, European español, Deutsch, français, русский, português do Brasil, Italian, polski