Treacher Collins syndrome
(Redirected from Franceschetti-Zwahlen-Klein syndrome)
Treacher Collins syndrome (TCS) is a genetic disorder characterized by deformities of the ears, eyes, cheekbones, and chin. The degree to which a person is affected can vary from mild to severe. Complications may include breathing problems, problems seeing, cleft palate, and hearing loss.
Signs and Symptoms[edit | edit source]
Individuals with Treacher Collins syndrome often have underdeveloped facial bones, particularly the cheekbones, and a very small jaw and chin (micrognathia). Some people with this condition are also born with a cleft palate. The eyes may be slanted downward, and there may be a notch in the lower eyelids called a coloboma. Additionally, individuals may have absent, small, or unusually formed ears, which can lead to hearing loss.
Genetics[edit | edit source]
Treacher Collins syndrome is usually inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In about 60% of cases, the condition results from new mutations in the gene and occurs in people with no history of the disorder in their family. The remaining cases are inherited from an affected parent. The condition is associated with mutations in the TCOF1, POLR1C, or POLR1D genes.
Diagnosis[edit | edit source]
Diagnosis of Treacher Collins syndrome is based on clinical evaluation, characteristic physical findings, and genetic testing. Prenatal diagnosis is possible through ultrasound and genetic testing if there is a known family history of the disorder.
Management[edit | edit source]
Management of Treacher Collins syndrome often requires a multidisciplinary approach. Treatment may include surgery to correct facial deformities, hearing aids to address hearing loss, and speech therapy. Early intervention is important to address developmental delays and improve quality of life.
Epidemiology[edit | edit source]
Treacher Collins syndrome affects approximately 1 in 50,000 people. It occurs in all populations and affects males and females equally.
History[edit | edit source]
The condition is named after Edward Treacher Collins, a British surgeon and ophthalmologist who described the essential features of the syndrome in 1900. However, earlier descriptions of the condition were made by other physicians.
Related Pages[edit | edit source]
NIH genetic and rare disease info[edit source]
Treacher Collins syndrome is a rare disease.
| Treacher Collins syndrome Resources | |
|---|---|
 |
 |
Treacher Collins syndrome
Treacher Collins syndrome
Search WikiMD
Ad.Tired of being Overweight? Try W8MD's physician weight loss program.
Semaglutide (Ozempic / Wegovy and Tirzepatide (Mounjaro / Zepbound) available.
Advertise on WikiMD
|
WikiMD's Wellness Encyclopedia |
| Let Food Be Thy Medicine Medicine Thy Food - Hippocrates |
Translate this page: - East Asian
中文,
日本,
한국어,
South Asian
हिन्दी,
தமிழ்,
తెలుగు,
Urdu,
ಕನ್ನಡ,
Southeast Asian
Indonesian,
Vietnamese,
Thai,
မြန်မာဘာသာ,
বাংলা
European
español,
Deutsch,
français,
Greek,
português do Brasil,
polski,
română,
русский,
Nederlands,
norsk,
svenska,
suomi,
Italian
Middle Eastern & African
عربى,
Turkish,
Persian,
Hebrew,
Afrikaans,
isiZulu,
Kiswahili,
Other
Bulgarian,
Hungarian,
Czech,
Swedish,
മലയാളം,
मराठी,
ਪੰਜਾਬੀ,
ગુજરાતી,
Portuguese,
Ukrainian
Medical Disclaimer: WikiMD is not a substitute for professional medical advice. The information on WikiMD is provided as an information resource only, may be incorrect, outdated or misleading, and is not to be used or relied on for any diagnostic or treatment purposes. Please consult your health care provider before making any healthcare decisions or for guidance about a specific medical condition. WikiMD expressly disclaims responsibility, and shall have no liability, for any damages, loss, injury, or liability whatsoever suffered as a result of your reliance on the information contained in this site. By visiting this site you agree to the foregoing terms and conditions, which may from time to time be changed or supplemented by WikiMD. If you do not agree to the foregoing terms and conditions, you should not enter or use this site. See full disclaimer.
Credits:Most images are courtesy of Wikimedia commons, and templates, categories Wikipedia, licensed under CC BY SA or similar.
Contributors: Prab R. Tumpati, MD
