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   What is Treacher Collins syndrome (TCS)?

   • Treacher Collins syndrome (TCS) is characterized by facial features of bilateral and symmetric downslanting palpebral fissures, malar hypoplasia, and micrognathia. The hypoplasia of the zygomatic bones and mandible can cause significant feeding and respiratory difficulties. Ear abnormalities are associated with conductive hearing loss.

   Treacher Collins Syndrome - GeneReviews® - NCBI Bookshelf

   www.ncbi.nlm.nih.gov/books/NBK1532/

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   Is Treacher Collins syndrome symmetrical?

   • Most of the features of TCS are symmetrical and are already recognizable at birth. [citation needed] The most common symptom of Treacher Collins syndrome is underdevelopment of the lower jaw and underdevelopment of the zygomatic bone. This can be accompanied by the tongue being retracted.

   Treacher Collins syndrome - Wikipedia

   en.wikipedia.org/wiki/Treacher_Collins_syndrome

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   What is the mutational spectrum in Treacher Collins syndrome?

   • The mutational spectrum in Treacher Collins syndrome reveals a predominance of mutations that create a premature-termination codon. Am J Hum Genet. 1997;60:515–24. [ PMC free article] [ PubMed] Ellis PE, Dawson M, Dixon MJ. Mutation testing in Treacher Collins Syndrome. J Orthod. 2002;29:293–7. [ PubMed] Emes RD, Ponting CP.

   Treacher Collins Syndrome - GeneReviews® - NCBI Bookshelf

   www.ncbi.nlm.nih.gov/books/NBK1532/

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   Can Treacher Collins syndrome be inherited?

   • Genetic counseling. Treacher Collins syndrome (TCS) can be inherited in an autosomal dominant or autosomal recessive manner. Autosomal dominant TCS. About 55%-61% of probands have the disorder as the result of a de novo TCOF1, POLR1D, or POLR1B pathogenic variant.

   Treacher Collins Syndrome - GeneReviews® - NCBI Bookshelf

   www.ncbi.nlm.nih.gov/books/NBK1532/

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2. en.wikipedia.org › wiki › Treacher_Collins_syndromeTreacher Collins syndrome - Wikipedia

   en.wikipedia.org › wiki › Treacher_Collins_syndrome

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   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, however, may vary from mild to severe. Complications may include breathing problems, problems seeing, cleft palate, and hearing loss.

3. www.ncbi.nlm.nih.gov › pmc › articlesTreacher Collins Syndrome: Genetics, Clinical Features and ...

   www.ncbi.nlm.nih.gov › pmc › articles

   Sep 9, 2021 · Treacher Collins syndrome (TCS) is associated with abnormal differentiation of the first and second pharyngeal arches, occurring during fetal development. Features of TCS include microtia with conductive hearing loss, slanting palpebral fissures with possibly coloboma of the lateral part of lower eyelids, midface hypoplasia, micrognathia as ...

   • Author: Bożena Anna Marszałek-Kruk, Piotr Wójcicki, Krzysztof Dowgierd, Robert Śmigiel
   • DOI: 10.3390/genes12091392

   • Publish Year: 2021
   • Publication: Genes (Basel). 2021 Sep; 12(9): 1392.

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5. rarediseases.org › rare-diseases › treacher-collins-Treacher Collins Syndrome - Symptoms, Causes, Treatment | NORD

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   Nov 1, 2023 · Treacher Collins syndrome (TCS) is a rare genetic disorder characterized by distinctive features of the head and face. Craniofacial differences tend to involve underdevelopment of the facial skeleton, cheekbones, jaws, palate and mouth which can lead to breathing and feeding difficulties.

6. www.urmc.rochester.edu › treacher-collinsWhat is Treacher Collins Syndrome? - Pediatric Cleft and ...

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   Treacher Collins Syndrome is believed to be caused by a change in the gene on chromosome 5, which affects facial development. About 40% of the time, one parent has Treacher Collins Syndrome. If the parents of the affected child are not affected by the syndrome, the chances of a sibling having Treacher Collins are minimal.

7. www.verywellhealth.com › treacher-collins-syndromeTreacher Collins Syndrome and Its Causes - Verywell Health

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   Mar 19, 2024 · The most common mutation associated with Treacher-Collins syndrome is a defect in the TCOF1 gene, located on chromosome 5 in the 5q32 region. At least 200 different defects have been known to occur on this chromosome.

8. www.chop.edu › treacher-collins-syndromeTreacher Collins Syndrome | Children's Hospital of Philadelphia

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   Treacher Collins syndrome is a genetic birth defect characterized by a range of distinctive craniofacial anomalies that can affect the eyes, ears, cheeks, palate and jaw. A distinctive facial appearance is characteristic of Treacher Collins syndrome.

9. www.ncbi.nlm.nih.gov › books › NBK1532Treacher Collins Syndrome - GeneReviews® - NCBI Bookshelf

   www.ncbi.nlm.nih.gov › books › NBK1532

   Jul 20, 2004 · Treacher Collins syndrome (TCS) is characterized by facial features of bilateral and symmetric downslanting palpebral fissures, malar hypoplasia, and micrognathia. The hypoplasia of the zygomatic bones and mandible can cause significant feeding and respiratory difficulties.