Knowra Treacher Collins syndrome Treacher Collins syndrome Treacher Collins syndrome is an inherited craniofacial disorder that disrupts development of the cheekbones, jaw, ears, and other facial structures. Its features vary widely and usually do not affect intelligence.
Ribosome biogenesis : The cellular process of producing ribosomes, the structures that build proteins. Several syndrome-associated genes help produce ribosomes, linking their disruption to early craniofacial development.
TCOF1 : A gene that encodes treacle, a protein involved in ribosome production and associated with Treacher Collins syndrome. Variants in TCOF1 account for most genetically identified cases.
Clinical genetics : The medical field that uses genetic information to diagnose and manage inherited conditions. Clinical geneticists assess family history, examine features, and arrange testing for suspected cases.
Edward Treacher Collins : An English surgeon and ophthalmologist who described the facial features later associated with Treacher Collins syndrome. His 1900 account gave the condition its eponym.
Nager syndrome : A rare craniofacial disorder involving cheekbone and jaw underdevelopment, often with limb differences. Its facial findings can resemble Treacher Collins syndrome, while distinctive limb differences help separate them.
Neural crest : An embryonic cell population that gives rise to many structures, including much of the face and peripheral nervous system. Disrupted development of neural crest cells is central to the facial differences in this syndrome.
POLR1B : A gene encoding a subunit of RNA polymerase I, variants in which can cause Treacher Collins syndrome. Its role in ribosomal RNA production connects another genetic cause to the syndrome's developmental mechanism.
Genetic testing : Laboratory analysis of DNA to identify genetic variants associated with a condition. Testing can confirm a suspected diagnosis and clarify inheritance and recurrence risk.
Adolphe Franceschetti : A Swiss ophthalmologist who helped characterize and name mandibulofacial dysostosis. His terminology, used with David Klein, describes the syndrome by its developmental features rather than its eponym.
Miller syndrome : A rare inherited craniofacial condition that can include cheek and jaw underdevelopment and limb abnormalities. Overlapping facial features can obscure diagnosis, but limb findings and genetic causes differ.
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