Treacher Collins Syndrome (2024)

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  • Dixon J, Edwards SJ, Anderson I, Brass A, Scambler PJ, Dixon MJ. Identification of the complete coding sequence and genomic organization of the Treacher Collins syndrome gene. Genome Res. 1997a;7:223–34. [PubMed: 9074926]

  • Dixon J, Ellis I, Bottani A, Temple K, Dixon MJ. Identification of mutations in TCOF1: use of molecular analysis in the pre- and postnatal diagnosis of Treacher Collins syndrome. Am J Med Genet A. 2004;127A:244–8. [PubMed: 15150774]

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  • Giabicani E, Lemale J, Dainese L, Boudjemaa S, Coulomb A, Tounian P, Dubern B. Chronic intestinal pseudo-obstruction in a child with Treacher Collins syndrome. Archives de Pédiatrie. 2017;24:1000–4. [PubMed: 28927774]

  • Gladwin AJ, Dixon J, Loftus SK, Edwards S, Wasmuth JJ, Hennekam RC, Dixon MJ. Treacher Collins syndrome may result from insertions, deletions or splicing mutations, which introduce a termination codon into the gene. Hum Mol Genet. 1996;5:1533–8. [PubMed: 8894686]

  • Gonzales B, Henning D, So RB, Dixon J, Dixon MJ, Valdez BC. The Treacher Collins syndrome (TCOF1) gene product is involved in pre-rRNA methylation. Hum Mol Genet. 2005;14:2035–43. [PubMed: 15930015]

  • Hayano T, Yanagida M, Yamauchi Y, Shinkawa T, Isobe T, Takahashi N. Proteomic analysis of human Nop56p-associated pre-ribosomal ribonucleoprotein complexes. Possible link between Nop56p and the nucleolar protein treacle responsible for Treacher Collins syndrome. J Biol Chem. 2003;278:34309–19. [PubMed: 12777385]

  • Hertle RW, Ziylan S, Katowitz JA. Ophthalmic features and visual prognosis in the Treacher-Collins syndrome. Br J Ophthalmol. 1993;77:642–5. [PMC free article: PMC504607] [PubMed: 8218033]

  • Horiuchi K, Ariga T, Fujioka H, Kawashima K, Yamamoto Y, Igawa H, Sugihara T, Sakiyama Y. Mutational analysis of the TCOF1 gene in 11 Japanese patients with Treacher Collins Syndrome and mechanism of mutagenesis. Am J Med Genet A. 2005;134:363–7. [PubMed: 15759264]

  • Hosking J,Zoanetti D, Carlyle A, Anderson P, Costi D (2012) Anesthesia for Treacher Collins syndrome: a review of airway management in 240 pediatric cases. [PubMed: 22394325]

  • Huang SJ, Amendola LM, Sternen DL. Variation among DNA banking consent forms: points for clinicians to bank on. J Community Genet. 2022;13:389–97. [PMC free article: PMC9314484] [PubMed: 35834113]

  • Isaac C, Marsh KL, Paznekas WA, Dixon J, Dixon MJ, Jabs EW, Meier UT. Characterization of the nucleolar gene product, treacle, in Treacher Collins syndrome. Mol Biol Cell. 2000;11:3061–71. [PMC free article: PMC14975] [PubMed: 10982400]

  • Jónsson H, Sulem P, Kehr B, Kristmundsdottir S, Zink F, Hjartarson E, Hardarson MT, Hjorleifsson KE, Eggertsson HP, Gudjonsson SA, Ward LD, Arnadottir GA, Helgason EA, Helgason H, Gylfason A, Jonasdottir A, Jonasdottir A, Rafnar T, Frigge M, Stacey SN, Th Magnusson O, Thorsteinsdottir U, Masson G, Kong A, Halldorsson BV, Helgason A, Gudbjartsson DF, Stefansson K. Parental influence on human germline de novo mutations in 1,548 trios from Iceland. Nature. 2017;549:519–22. [PubMed: 28959963]

  • Kobus K, Wojcicki P. Surgical treatment of Treacher Collins syndrome. Ann Plast Surg. 2006;56:549–54. [PubMed: 16641634]

  • Konstantinidou AE, Tasoulas J, Kallipolitis G, Gasparatos S, Velissariou V, Paraskevakou H. Mandibulofacial dysostosis (Treacher-Collins syndrome) in the fetus: novel association with Pectus carinatum in a molecularly confirmed case and review of the fetal phenotype. Birth Defects Res A Clin Mol Teratol. 2013;97:774–80. [PubMed: 24288143]

  • Macaya D, Katsanis SH, Hefferon TW, Audlin S, Mendelsohn NJ, Roggenbuck J, Cutting GR. A synonymous mutation in TCOF1 causes Treacher Collins syndrome due to mis-splicing of a constitutive exon. Am J Med Genet. 2009;149A:1624–7. [PubMed: 19572402]

  • Marres HA. Hearing loss in the Treacher-Collins syndrome. Adv Otorhinolaryngol. 2002;61:209–15. [PubMed: 12408086]

  • Marszałek B, Wojcicki P, Kobus K, Trzeciak WH. Clinical features, treatment and genetic background of Treacher Collins syndrome. J Appl Genet. 2002;43:223–33. [PubMed: 12080178]

  • Noack Watt KE, Achilleos A, Neben CL, Merrill AE, Trainor PA. The roles of RNA polymerase I and III subunits Polr1c and Polr1d in craniofacial development and in zebrafish models of Treacher Collins syndrome. PLoS Genet. 2016;12:e1006187. [PMC free article: PMC4957770] [PubMed: 27448281]

  • Pereira DC, Bussamra LC, Araujo Júnior E, Drummond CL, Nardozza LM, Moron AF, Aldrighi JM. Prenatal diagnosis of Treacher-Collins syndrome using three-dimensional ultrasonography and differential diagnosis with other acrofacial dysostosis syndromes. Case Rep Obstet Gynecol. 2013;2013;2013:203976. [PMC free article: PMC3638565] [PubMed: 23653874]

  • Posnick JC. Treacher Collins syndrome: perspectives in evaluation and treatment. J Oral Maxillofac Surg. 1997;55:1120–33. [PubMed: 9331237]

  • Posnick JC, Ruiz RL. Treacher Collins syndrome: current evaluation, treatment, and future directions. Cleft Palate Craniofac J. 2000;37:434. [PubMed: 11034023]

  • Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015;17:405–24. [PMC free article: PMC4544753] [PubMed: 25741868]

  • Rotten D, Levaillant JM, Martinez H, Ducou le Pointe H, Vicaut E. The fetal mandible: a 2D and 3D sonographic approach to the diagnosis of retrognathia and micrognathia. Ultrasound Obstet Gynecol. 2002;19:122–30. [PubMed: 11876802]

  • Sakai D, Trainor PA. Treacher Collins syndrome: unmasking the role of Tcof1/treacle. Int J Biochem Cell Biol. 2009;41:1229–32. [PMC free article: PMC3093759] [PubMed: 19027870]

  • Sanchez E, Laplace-Builhé B, Mau-Them FT, Richard E, Goldenberg A, Toler TL, Guignard T, Gatinois V, Vincent M, Blanchet C, Boland A, Bihoreau MT, Deleuze JF, Olaso R, Nephi W, Lüdecke HJ, Verheij JBGM, Moreau-Lenoir F, Denoyelle F, Rivière JB, Laplanche JL, Willing M, Captier G, Apparailly F, Wieczorek D, Collet C, Djouad F, Geneviève D. POLR1B and neural crest cell anomalies in Treacher Collins syndrome type 4. Genet Med. 2020;22:547–56. [PMC free article: PMC7056642] [PubMed: 31649276]

  • Schaefer E, Collet C, Genevieve D, Vincent M, Lohmann DR, Sanchez E, Bolender C, Eliot MM, Nürnberg G, Passos-Bueno MR, Wieczorek D, van Maldergem L, Doray B. Autosomal recessive POLR1D mutation with decrease of TCOF1 mRNA is responsible for Treacher Collins syndrome. Genet Med. 2014;16:720–4. [PubMed: 24603435]

  • Shoo BA, McPherson E, Jabs EW. Mosaicism of a TCOF1 mutation in an individual clinically unaffected with Treacher Collins syndrome. Am J Med Genet. 2004;126A:84–8. [PubMed: 15039977]

  • Singh DJ, Bartlett SP. Congenital mandibular hypoplasia: analysis and classification. J Craniofac Surg. 2005;16:291–300. [PubMed: 15750428]

  • So RB, Gonzales B, Henning D, Dixon J, Dixon MJ, Valdez BC. Another face of the Treacher Collins syndrome (TCOF1) gene: identification of additional exons. Gene. 2004;328:49–57. [PubMed: 15019983]

  • Splendore A, Fanganiello RD, Masotti C, Morganti LS, Passos-Bueno MR. TCOF1 mutation database: novel mutation in the alternatively spliced exon 6A and update in mutation nomenclature. Hum Mutat. 2005;25:429–34. [PubMed: 15832313]

  • Splendore A, Jabs EW, Passos-Bueno MR. Screening of TCOF1 in patients from different populations: confirmation of mutational hot spots and identification of a novel missense mutation that suggests an important functional domain in the protein treacle. J Med Genet. 2002;39:493–5. [PMC free article: PMC1735178] [PubMed: 12114482]

  • Splendore A, Silva EO, Alonso LG, Richieri-Costa A, Alonso N, Rosa A, Carakushanky G, Cavalcanti DP, Brunoni D, Passos-Bueno MR. High mutation detection rate in TCOF1 among Treacher Collins syndrome patients reveals clustering of mutations and 16 novel pathogenic changes. Hum Mutat. 2000;16:315–22. [PubMed: 11013442]

  • Teber OA, Gillessen-Kaesbach G, Fischer S, Bohringer S, Albrecht B, Albert A, Arslan-Kirchner M, Haan E, Hagedorn-Greiwe M, Hammans C, Henn W, Hinkel GK, Konig R, Kunstmann E, Kunze J, Neumann LM, Prott EC, Rauch A, Rott HD, Seidel H, Spranger S, Sprengel M, Zoll B, Lohmann DR, Wieczorek D. Genotyping in 46 patients with tentative diagnosis of Treacher Collins syndrome revealed unexpected phenotypic variation. Eur J Hum Genet. 2004;12:879–90. [PubMed: 15340364]

  • Thompson JT, Anderson PJ, David DJ. Treacher Collins syndrome: protocol management from birth to maturity. J Craniofac Surg. 2009;20:2028–35. [PubMed: 19881372]

  • Trainor PA, Andrews BT. Facial dysostoses: etiology, pathogenesis and management. Am J Med Genet C Semin Med Genet. 2013;163C:283–94. [PMC free article: PMC3870197] [PubMed: 24123981]

  • Trainor PA, Dixon J, Dixon MJ. Treacher Collins syndrome: etiology, pathogenesis and prevention. Eur J Hum Genet. 2009;17:275–83. [PMC free article: PMC2986179] [PubMed: 19107148]

  • Treacher Collins Syndrome Collaborative Group. Positional cloning of a gene involved in the pathogenesis of Treacher Collins syndrome. Nat Genet. 1996;12:130–6. [PubMed: 8563749]

  • Vincent M, Collet C, Verloes A, Lambert L, Herlin C, Blanchet C, Sanchez E, Drunat S, Vigneron J, Laplanche JL, Puechberty J, Sarda P, Geneviève D. Large deletions encompassing the TCOF1 and CAMK2A genes are responsible for Treacher Collins syndrome with intellectual disability. Eur J Hum Genet. 2014;22:52–6. [PMC free article: PMC3865420] [PubMed: 23695276]

  • Vincent M, Geneviève D, Ostertag A, Marlin S, Lacombe D, Martin-Coignard D, Coubes C, David A, Lyonnet S, Vilain C, Dieux-Coeslier A, Manouvrier S, Isidor B, Jacquemont ML, Julia S, Layet V, Naudion S, Odent S, Pasquier L, Pelras S, Philip N, Pierquin G, Prieur F, Aboussair N, Attie-Bitach T, Baujat G, Blanchet P, Blanchet C, Dollfus H, Doray B, Schaefer E, Edery P, Giuliano F, Goldenberg A, Goizet C, Guichet A, Herlin C, Lambert L, Leheup B, Martinovic J, Mercier S, Mignot C, Moutard ML, Perez MJ, Pinson L, Puechberty J, Willems M, Randrianaivo H, Szakszon K, Toutain A, Verloes A, Vigneron J, Sanchez E, Sarda P, Laplanche JL, Collet C. Treacher Collins syndrome: a clinical and molecular study based on a large series of patients. Genet Med. 2016;18:49–56. [PubMed: 25790162]

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  • Winokur ST, Shiang R. The Treacher Collins syndrome (TCOF1) gene product, treacle, is targeted to the nucleolus by signals in its C-terminus. Hum Mol Genet. 1998;7:1947–52. [PubMed: 9811939]

  • Wise CA, Chiang LC, Paznekas WA, Sharma M, Musy MM, Ashley JA, Lovett M, Jabs EW. TCOF1 gene encodes a putative nucleolar phosphoprotein that exhibits mutations in Treacher Collins syndrome throughout its coding region. Proc Natl Acad Sci U S A. 1997;94:3110–5. [PMC free article: PMC20330] [PubMed: 9096354]

  • Treacher Collins Syndrome (2024)

    FAQs

    Treacher Collins Syndrome? ›

    Treacher Collins syndrome is a rare, genetic condition affecting the way the face develops — especially the cheekbones, jaws, ears and eyelids. These differences often cause problems with breathing, swallowing, chewing, hearing and speech. How severe the syndrome is varies widely from child to child.

    What is the life expectancy for Treacher Collins syndrome? ›

    A patient diagnosed with Treacher Collins syndrome (TCS) may expect to have approximately the same lifetime as the general population with proper management and a healthy lifestyle. The life expectancy is normal as long as breathing problems during infancy are managed well.

    What is Treacher Collins syndrome caused by? ›

    Cause of Treacher Collins syndrome

    A change in the gene TCOF1 causes up to 93 per cent of cases of Treacher Collins syndrome. This gene, located on chromosome 5, is responsible for facial development. In about half of all cases, TCOF1 spontaneously changes at conception but what triggers the gene change is unknown.

    Can people with Treacher Collins have kids? ›

    What are the chances of having a child with Treacher Collins syndrome? If one parent has Treacher Collins syndrome, there is a 50 percent chance that the child will be born with the disorder. Unaffected parents who have one child with Treacher Collins syndrome rarely give birth to a second child with the condition.

    Can Treacher Collins be detected before birth? ›

    Treacher Collins syndrome (TCS) should be suspected if the triad of micrognathia, glossoptosis, and posterior cleft palate, and deformed external ears are observed during prenatal ultrasonography, excepting Pierre Robin sequence.

    Is Treacher Collins syndrome a form of autism? ›

    TCS is a genetic disorder that is characterized by a mandibulofacial dysostosis but is not associated with developmental delay, nor is it associated with a high risk of co-morbid autism, and to our knowledge, there are no previous reports of a co-occurrence of TCS and ASD in the extant literature.

    Why was Auggie's case so unusual? ›

    It's the first time “Auggie” (played by Jacob Tremblay) has been to school outside of the home, because he was born with Treacher Collins syndrome, a rare facial deformity that's required dozens of surgeries during his first decade of life.

    Who is most likely to get Treacher Collins syndrome? ›

    TCS affects males and females in equal numbers. The prevalence is estimated to be between 1 in 10,000-50,000 individuals in the general population. Some mildly affected individuals may go undiagnosed, making it difficult to determine the disorder's true frequency in the general population.

    How often are babies born with Treacher Collins syndrome? ›

    Treacher Collins syndrome happens in about 1 in 50,000 newborns worldwide. Children with Treacher Collins syndrome need coordinated care by providers from many areas of healthcare.

    How severe is Auggie's case in Wonder? ›

    Auggie's birth defect, which ranges in severity, is characterized by underdeveloped facial bones that affect his eyes, ears, cheeks, palate and jaw structure. Many patients with craniofacial disorders undergo a series of plastic and reconstructive surgeries every year, starting at a young age.

    Who was the first person to have Treacher Collins? ›

    History and Etiology

    Thomson was the first to refer to this syndrome in 1846. In 1900, Dr E Treacher Collins, a British ophthalmologist, described two children who had very small cheek bones and notches in their lower eyelids. Therefore, the condition gets its name from him.

    What is golden heart syndrome? ›

    Goldenhar syndrome (GS) is a relatively common developmental disorder characterized by craniofacial anomalies in association with vertebral, cardiac, renal, and central nervous system defects.

    How many people in the US are born with Treacher Collins syndrome? ›

    Treacher Collins syndrome (TCS) is a rare group of facial differences that are present at birth. There are currently about 10,000 people in the U.S who were born with TCS. The syndrome affects one in 50,000 births.

    What is Noonan syndrome? ›

    Noonan syndrome is a genetic disorder characterized by short stature, distinctive facial features, heart defects, bleeding problems and skeletal abnormalities. Most individuals with Noonan syndrome have normal intelligence, but some may have special educational needs or intellectual disability.

    What is the syndrome with no ears? ›

    Ear Reconstruction. Bilateral microtia is one of the most prominent features of TCS and is present to some degree in 85% of patients. This deformity can be absent or mild, or the patient can have complete anotia without any auricular remnant.

    What are some interesting facts about Treacher Collins syndrome? ›

    Individuals with this condition typically have the following clinical features:
    • Down-slanting eyes.
    • Coloboma. The most common colobomas develop in the iris causing the pupil to have a keyhole or cat-eye shape.
    • Underdeveloped cheekbones.
    • Small jaw.
    • Cleft palate or high-arched palate.
    • Malformed or absent ears.
    Sep 3, 2023

    Is Treacher Collins syndrome life threatening? ›

    In severe cases, underdevelopment of the facial bones may restrict an affected infant's airway, causing potentially life-threatening respiratory problems.

    Does Treacher Collins affect the brain? ›

    This syndrome is a genetic disorder that mainly affects the bones and tissues in a child's face. It is rare, only affecting about one out of every 50,000 children. Treacher Collins syndrome (TCS) does not affect growth or brain development, but it can cause breathing, hearing, and vision problems.

    What is the average lifespan? ›

    In 2022, the CDC estimates life expectancy at birth in the U.S. increased to 77.5 years, up 1.1 years from 76.4 years in 2021, but still down 1.3 years from 78.8 years in 2019, before the COVID-19 pandemic.

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