Uma condição congênita (de nascença) que afeta o desenvolvimento da cabeça e do rosto. Ela é caracterizada por problemas de formação nas orelhas e na mandíbula que são iguais nos dois lados do rosto, sem que haja alterações nos braços e nas pernas. Além disso, a condição vem acompanhada de outros problemas na região da cabeça e do pescoço.
Introdução
O que você precisa saber de cara
Uma condição congênita (de nascença) que afeta o desenvolvimento da cabeça e do rosto. Ela é caracterizada por problemas de formação nas orelhas e na mandíbula que são iguais nos dois lados do rosto, sem que haja alterações nos braços e nas pernas. Além disso, a condição vem acompanhada de outros problemas na região da cabeça e do pescoço.
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 26 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 96 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
4 genes identificados com associação a esta condição. Padrão de herança: Autosomal dominant, Autosomal recessive.
DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Common component of RNA polymerases I and III which synthesize ribosomal RNA precursors and short non-coding RNAs including 5S rRNA, snRNAs, tRNAs and miRNAs, respectively
NucleusNucleus, nucleolus
Treacher Collins syndrome 2
A form of Treacher Collins syndrome, a disorder of craniofacial development. Treacher Collins syndrome is characterized by a combination of bilateral downward slanting of the palpebral fissures, colobomas of the lower eyelids with a paucity of eyelashes medial to the defect, hypoplasia of the facial bones, cleft palate, malformation of the external ears, atresia of the external auditory canals, and bilateral conductive hearing loss.
DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Common component of RNA polymerases I and III which synthesize ribosomal RNA precursors and short non-coding RNAs including 5S rRNA, snRNAs, tRNAs and miRNAs, respectively. POLR1C/RPAC1 is part of the polymerase core and may function as a clamp element that moves to open and close the cleft
NucleusNucleus, nucleolusCytoplasm, cytosol
Treacher Collins syndrome 3
A form of Treacher Collins syndrome, a disorder of craniofacial development. Treacher Collins syndrome is characterized by a combination of bilateral downward slanting of the palpebral fissures, colobomas of the lower eyelids with a paucity of eyelashes medial to the defect, hypoplasia of the facial bones, cleft palate, malformation of the external ears, atresia of the external auditory canals, and bilateral conductive hearing loss.
Catalytic core component of RNA polymerase I (Pol I), a DNA-dependent RNA polymerase which synthesizes ribosomal RNA precursors using the four ribonucleoside triphosphates as substrates. Transcribes 47S pre-rRNAs from multicopy rRNA gene clusters, giving rise to 5.8S, 18S and 28S ribosomal RNAs (PubMed:11250903, PubMed:11283244, PubMed:16858408, PubMed:34671025, PubMed:34887565, PubMed:36271492). Pol I-mediated transcription cycle proceeds through transcription initiation, transcription elongati
Nucleus, nucleolusChromosome
Treacher Collins syndrome 4
A form of Treacher Collins syndrome, a disorder of craniofacial development. Treacher Collins syndrome is characterized by a combination of bilateral downward slanting of the palpebral fissures, colobomas of the lower eyelids with a paucity of eyelashes medial to the defect, hypoplasia of the facial bones, cleft palate, malformation of the external ears, atresia of the external auditory canals, and bilateral conductive hearing loss. TCS4 inheritance pattern is autosomal dominant.
Nucleolar protein that acts as a regulator of RNA polymerase I by connecting RNA polymerase I with enzymes responsible for ribosomal processing and modification (PubMed:12777385, PubMed:26399832). Required for neural crest specification: following monoubiquitination by the BCR(KBTBD8) complex, associates with NOLC1 and acts as a platform to connect RNA polymerase I with enzymes responsible for ribosomal processing and modification, leading to remodel the translational program of differentiating
Nucleus, nucleolus
Treacher Collins syndrome 1
A form of Treacher Collins syndrome, a disorder of craniofacial development. Treacher Collins syndrome is characterized by a combination of bilateral downward slanting of the palpebral fissures, colobomas of the lower eyelids with a paucity of eyelashes medial to the defect, hypoplasia of the facial bones, cleft palate, malformation of the external ears, atresia of the external auditory canals, and bilateral conductive hearing loss.
Variantes genéticas (ClinVar)
206 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 865 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
15 vias biológicas associadas aos genes desta condição.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Síndrome Treacher-Collins
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Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.
Pesquisa ativa
Ensaios clínicos abertos e novidades científicas recentes
Ensaios em destaque
Pesquisa e ensaios clínicos
13 ensaios clínicos encontrados.
Publicações mais relevantes
Integrating imaging and genomics in prenatal Treacher Collins syndrome: evidence for practice and policy.
To elucidate the prenatal diagnostic challenges, genetic landscape, and clinical outcomes of Treacher Collins syndrome (TCS), focusing on the role of TCOF1 variants, prenatal ultrasound findings, and counselling implications. A systematic literature review (2000–2025) identified 273 TCS cases, supplemented by two index cases(one from each of two unrelated families) from our centre. Data included genetic testing (whole-exome sequencing, Sanger sequencing), prenatal imaging, and clinical outcomes. Variants in TCOF1 were analyzed alongside genotype-phenotype correlations and mosaicism. We assembled 275 patients in total, including 273 cases from the literature and two index cases from our centre. We summarized 15 individuals with prenatal ultrasound assessment and/or pregnancy outcomes(2 from our centre and 13 from the literature). Across 303 TCOF1 variant entries extracted from the included reports frameshift changes were most frequent at 66.01%, followed by nonsense variants at 10.56%, with missense, large deletions, and splice variants comprising the remainder. Pathogenic TCOF1 variants were dominated by frameshift and nonsense changes, and truncations in later exons, for example exon 24, were enriched among severe phenotypes; overall, 68 of 275 cases, that is, 24.73%, were categorized as severe. Parental mosaicism was identified or suspected in 6 of the 275 cases (2.18%), including low-level paternal mosaicism confirmed in blood and semen in one family. Termination of pregnancy (ToP) occurred in 6 cases within this prenatal findings dataset, attributable to severe airway risks or parental choice. Postnatal management (airway support, hearing aids, reconstructive surgery) supported survival in 263/275 (95.64%) of all reported cases. Prenatal diagnosis of TCS relies on ultrasound detection of craniofacial anomalies and gene testing, but severity prediction remains challenging due to mosaicism and variable expressivity. Low-level parental mosaicism materially affects recurrence-risk counselling and should be actively considered when a foetal variant appears de novo. Early genetic diagnosis and personalized counselling are crucial for effective TCS management, helping families navigate medical, ethical, and sociocultural concerns. The online version contains supplementary material available at 10.1186/s13023-025-04094-4.
Genetic and Molecular Characterization of Treacher Collins Syndrome in Three Mexican Families.
Treacher Collins syndrome (TCS) is a rare disorder within the group of mandibulofacial dysostoses, occurring in 1 in 50,000 live births. It is characterized by anomalies in the maxillary, mandibular, and stapes bones, among others. TCS is caused by pathogenic variants in the TCOF1, POLR1D, POLR1C, and POLR1B genes with autosomal dominant or recessive inheritance patterns. Genetic data from Latin American populations remain scarce. Eleven patients from three different families were recruited. Whole-exome sequencing (WES) was performed on the probands to identify genetic variants, followed by Sanger sequencing for variant validation and familial segregation analysis. Finally, three-dimensional protein structures of wild-type and mutant proteins were predicted. In Family 1, a heterozygous pathogenic splice-site variant in the TCOF1 gene, c.4345 + 1 G > A, was identified and inherited from her mother. In Family 2, a heterozygous pathogenic variant in the TCOF1 gene, c.226_227insC (p.R77fs), was identified and inherited from the paternal lineage. In Family 3, a heterozygous pathogenic POLR1D variant, c.290_291delAG (p.G99fs), was identified among multiple affected relatives; direct parent-of-origin could not be established due to unavailability of one parent, but segregation supports autosomal dominant transmission across three generations. All findings were validated by Sanger sequencing. Our findings highlight the utility of WES for the molecular diagnosis of TCS and underscore the importance of including underrepresented populations in genetic studies to improve diagnosis, genetic counseling, and perinatal planning in at-risk pregnancies.
TCOF1 affects Golgi secretory pathway contributing to the angiogenesis in renal cancer.
Evaluation of a Facial Dysmorphology Analysis Algorithm (Face2Gene) in Identifying Treacher Collins Syndrome Amongst Diverse Population.
Treacher Collins Syndrome (TCS) is an uncommon congenital disease of the craniofacial complex. While there are 'classic' facial manifestations of TCS, they present with a wide range of variability. Face2Gene (F2G) is a deep-learning algorithm that can provide differential diagnoses of syndromes via analysis of 2-dimensional facial images. This may aid early recognition of TCS, thus improving early multidisciplinary management. Our primary aim is to evaluate and compare the performance of F2G in TCS patients of various races. The secondary aim will be to correlate the pathognomonic facial features of these TCS patients with the diagnostic stratification by F2G. Publicly available images of TCS patients of White (n = 81), Chinese (n = 23), and Indian (n = 23) race were sourced for and screened prior to inclusion for documentation of facial dysmorphological features and F2G evaluation. The diagnostic sensitivity of F2G and computed gestalt score of TCS for each image were then derived. Statistical analysis for correlation between clinical features and F2G-derived gestalt scores for the TCS patients was performed. A total of 127 images of TCS patients were analysed by F2G. A high diagnostic accuracy of 93.7% was obtained. However, F2G was less confident when diagnosing Asians with TCS than White individuals (p < 0.05). Malar hypoplasia was less prevalent in Indian TCS patients (p < 0.001). However, multidimensionality reduction showed no significant differences across the racial groups. Certain facial features were associated with higher model certainty in TCS diagnosis. F2G is a useful diagnostic adjunct for TCS. Nonetheless, further training on non-White datasets may help improve model certainty in diagnosis.
Congenital Temporomandibular Joint Ankylosis: Investigating Potential Genetic Etiologies with Whole Exome Sequencing.
Background: Ankylosis of the temporomandibular joint (TMJ) is a rare developmental disorder that involves fibrous or bony fusion within the joint. It is a severe structural and functional disorder. Typically, the phenotype manifests as joint immobilization and results in facial deformity and trismus. To date, ankylosis is rarely diagnosed as congenital and its occurrence mechanism has not been thoroughly understood. We observed a female patient who as a newborn showed slight facial asymmetry and impaired mandibular retraction. In addition, non-uniform occlusal fissures were noted; the lower part of the left earlobe was slightly smaller than the right earlobe. The aim of the work was the identification of pathogenic variants in the genome related to ankylosis. Ankylosis has no known causative gene yet; thus, Whole Exome Sequencing (WES) was performed. Materials and Methods: We observed a female patient with facial asymmetry and impaired mandibular retraction from birth. No phenotypic abnormalities were noted on the head or elsewhere on the body. A diagnostic computed tomography (CT) scan of the head performed at five months of age led to the diagnosis of congenital zygomatic-coronoid ankylosis. Genomic DNA samples were subjected to WES. Library preparation was carried out using the Twist Library Preparation EF Kit 2.0, followed by target enrichment with the Twist Exome 2.0 Plus Comprehensive Exome. Sequencing reads were aligned to the human reference genome (GRCh38), and variant calling was performed using standard bioinformatics workflows. Variants were subsequently filtered, annotated, and interpreted using VariantStudio. Assessment of variant pathogenicity was primarily based on comparisons with public databases, including ClinVar and VarSome, and was supported by in silico prediction tools such as SIFT and PolyPhen-2. Results: In genes responsible for disorders of the I and II pharyngeal arches, three pathogenic variants were identified: in the genes TCOF1 and POLR1B, responsible for the development of Treacher Collins syndrome (TCS), and one in the DHODH gene, responsible for Miller syndrome. Additionally, in genes that have not been linked so far with rare facial disorders, 42 variants were identified, of which 8 are listed as pathogenic. We present the first described patient with congenital ankylosis, who, although showing no phenotypic features of these syndromes, has identified pathogenic variants in genes responsible for craniofacial dysostosis. Conclusions: Variants in TCOF1, POLR1B and DHODH may represent candidate genetic factors associated with susceptibility to ankylosis. WES analysis is an appropriate method in the case of patients with congenital diseases with unknown genetic origin. In this study we provide a comprehensive list of all identified pathogenic variants. This might be useful for scientists searching for the genetic background of skeletal system issues, one of which could be bone and fibrous tissue remodeling.
Publicações recentes
Hearing rehabilitation in patients with Treacher Collins syndrome.
Integrating imaging and genomics in prenatal Treacher Collins syndrome: evidence for practice and policy.
TCOF1 affects Golgi secretory pathway contributing to the angiogenesis in renal cancer.
Evaluation of a Facial Dysmorphology Analysis Algorithm (Face2Gene) in Identifying Treacher Collins Syndrome Amongst Diverse Population.
Congenital Temporomandibular Joint Ankylosis: Investigating Potential Genetic Etiologies with Whole Exome Sequencing.
🥈 Observacional📚 EuropePMC541 artigos no totalmostrando 198
Integrating imaging and genomics in prenatal Treacher Collins syndrome: evidence for practice and policy.
Orphanet journal of rare diseasesTCOF1 affects Golgi secretory pathway contributing to the angiogenesis in renal cancer.
Cell communication and signaling : CCSEvaluation of a Facial Dysmorphology Analysis Algorithm (Face2Gene) in Identifying Treacher Collins Syndrome Amongst Diverse Population.
Orthodontics & craniofacial researchCongenital Temporomandibular Joint Ankylosis: Investigating Potential Genetic Etiologies with Whole Exome Sequencing.
Journal of clinical medicineGenetic and Molecular Characterization of Treacher Collins Syndrome in Three Mexican Families.
International journal of molecular sciencesTreacher-Collins Syndrome With Anorectal Malformation: A Rarity and a Challenge for the Surgical Team.
CureusA novel frameshift insertion variant in the TCOF1 gene associated with Treacher Collins syndrome.
Indian journal of ophthalmologyAnalysis of Treacher Collins syndrome 4-associated mutations in Schizosaccharomyces pombe.
FEBS open bioA novel pathogenic variant in POLR1D (c.220dup, p.His74ProfsTer8) causes Treacher Collins syndrome type 2 in a Chinese patient: a case report.
BMC pediatricsFetal Phenotype and Diagnosis of Treacher Collins Syndrome Due to a Novel POLR1D Variant.
Prenatal diagnosisImaging of Congenital and Developmental Conditions of the Temporomandibular Joint.
Neuroimaging clinics of North AmericaLateral mandibular ridge: A unique feature of the auriculocondylar syndrome.
European journal of radiologyCase Report: A novel heterozygous variant of the TCOF1 gene in Treacher Collins syndrome.
Frontiers in pediatricsLong-read DNA and RNA sequencing reveal an intronic retrotransposon insertion in TCOF1 causing Treacher Collins syndrome.
HGG advancesFeasibility of High-Resolution Oximeter Plus Actigraphy Combined with a Cloud-Based Algorithm for the Detection of Obstructive Sleep Apnea in Children with Craniofacial Anomalies.
Sleep science (Sao Paulo, Brazil)Evaluation of masticatory function in the pediatric and adult populations with Treacher Collins syndrome.
Journal of oral biology and craniofacial researchLow-Density Instrumentation for Scoliosis Correction in Monozygotic Twins With Treacher Collins Syndrome: A Case Report.
JBJS case connectorMultidisciplinary Airway Management and Postoperative Planning in a Pediatric Patient With Unrepaired Treacher-Collins Syndrome: A Case Report.
CureusReconstruction of Zygoma in Total Agenesis in Treacher-Collins Syndrome Using Kerfed Rib Grafts - A Retrospective Study.
Annals of maxillofacial surgeryFacial Bone Defects Associated with Lateral Facial Clefts Tessier Type 6, 7 and 8 in Syndromic Neurocristopathies: A Detailed Micro-CT Analysis on Historical Museum Specimens.
BiologyGene-environment interactions modulate the phenotype severity in mouse models of congenital craniofacial syndromes.
The Journal of clinical investigationThe Development of a European Registry for Facial Dysostosis Syndromes: A Delphi-Guided Approach.
The Journal of craniofacial surgeryObstructive Sleep Apnoea in Patients with Treacher Collins Syndrome-A Narrative Review.
Journal of clinical medicineMaternal antioxidant treatment partially rescues developmental defects in a Drosophila Polr1D mutant model.
microPublication biologyA Comparison of Speech Outcomes Among Patients With Syndromic Cleft Palate: A 20-year Review.
The Journal of craniofacial surgeryClarifying the Relationship Between Orbito-Zygomatic and Mandibular Dysmorphology in Treacher Collins Syndrome.
The Journal of craniofacial surgeryNovel nonsense mutation in the TCOF1 gene associated with treacher collins syndrome: A case report.
Science progressTissue-specific requirement of Polr1D in the prothoracic gland for ecdysone-mediated developmental transitions in Drosophila melanogaster.
Developmental dynamics : an official publication of the American Association of AnatomistsManagement and Outcomes of Neonates with Treacher Collins and Nager Syndromes.
The Journal of pediatricsIdentification of novel TCOF1 mutations in Treacher Collins syndrome and their functional characterization.
Orphanet journal of rare diseasesSialocele formation following facial reconstruction in a patient with Treacher Collins Syndrome.
Orbit (Amsterdam, Netherlands)POLR1D, a shared subunit of RNA polymerase I and III, modulates mTORC1 activity.
Biochimica et biophysica acta. Molecular cell researchMandibular Lengthening by Distraction for Airway Obstruction in Treacher-Collins Syndrome: The 30-Year Results.
The Journal of craniofacial surgeryThe Society for Craniofacial Genetics and Developmental Biology 47th Annual Meeting.
American journal of medical genetics. Part AA case of a child with anterior blepharitis caused by Candida albicans: a case report.
Journal of medical case reportsDeciphering TCOF1 mutations in Chinese Treacher Collins syndrome patients: insights into pathogenesis and transcriptional disruption.
Orphanet journal of rare diseasesSpectrum of Otological Manifestations in Treacher Collins Syndrome: A Case Series of 9 Patients.
Journal of computer assisted tomographyTreacher Collins syndrome: A comprehensive review on clinical features, diagnosis, and management.
Journal of family medicine and primary careImaging of Treacher Collins syndrome: A case report.
Radiology case reportsThe impact of neck flexion on ventilation and glottic visualisation in a child with Treacher Collins syndrome.
Anaesthesia reportsComplete Agenesis of Right Half of Soft Palate-A Case Report.
Indian journal of plastic surgery : official publication of the Association of Plastic Surgeons of IndiaComparison of Genetic, Auditory Features, and Systemic Clinical Phenotype in 14 Families with Syndromic Hearing Loss.
The application of clinical geneticsMolecular and Clinical Heterogeneity in Hungarian Patients with Treacher Collins Syndrome-Identification of Two Novel Mutations by Next-Generation Sequencing.
International journal of molecular sciencesRole of Nasopharyngeal Airway in Management of Craniofacial Syndrome-Associated Upper Airway Obstruction in Children.
Orthodontics & craniofacial researchMost common congenital syndromes with facial asymmetry: A narrative review.
Dental and medical problems[Treacher Collins Syndrome 2 caused by a novel pathogenic variant in PLOR1D: clinical report and literature review].
Zhonghua er bi yan hou tou jing wai ke za zhi = Chinese journal of otorhinolaryngology head and neck surgeryA Novel Variant of Treacle Ribosome Biogenesis Factor 1 (TCOF1) Gene Manifesting as Treacher Collins Syndrome.
CureusUntangling Zebrafish Genetic Annotation: Addressing Complexities and Nomenclature Issues in Orthologous Evaluation of TCOF1 and NOLC1.
Journal of molecular evolutionCochlear implantation in syndromic patients: difficulties and lessons learnt.
European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck SurgeryMandibular Distraction in Dual Syndromic Diagnosis.
The Journal of craniofacial surgeryAdults with Treacher Collins Syndrome Share Comparable 3D Upper Airway Dimensions with Nonsyndromic Individuals.
International journal of dentistryPeriorbital Outcomes and Vision Risk Stratification in Treacher Collins Syndrome.
Plastic and reconstructive surgeryNavigating Complexity in Mandibular Condyle Aplasia and Temporomandibular Joint Ankylosis in a Five-Year-Old Child: A Case Report.
CureusHuman Malformed Perinatal Anthropological Crania Contribute to New Insight in the Extension of Bone Malformations in Cranial Development.
Fetal and pediatric pathologyThe application of three-dimensional printing in the management of a difficult airway due to Treacher Collins syndrome.
Anaesthesia reportsPossible germline mosaicism in a pedigree with Treacher Collins syndrome: A case report and brief review.
Science progressBilateral Maxillary Duplication in Tessier No. 7 Cleft: An Uncommon Congenital Deformity with a Challenging Radiological Diagnosis.
Diagnostics (Basel, Switzerland)p53 inhibitor or antioxidants reduce the severity of ethmoid plate deformities in zebrafish Type 3 Treacher Collins syndrome model.
International journal of biological macromoleculesThe transcription of the main gene associated with Treacher-Collins syndrome (TCOF1) is regulated by G-quadruplexes and cellular nucleic acid binding protein (CNBP).
Scientific reportsA novel intronic TCOF1 pathogenic variant in a Chinese family with Treacher Collins syndrome.
BMC medical genomicsMisdiagnosis of Tracher-Collins Syndrome Initially Attributed to Drug Teratogenicity: A Moroccan Case Report.
Balkan journal of medical genetics : BJMGPediatric Temporomandibular Joint Pathology.
Oral and maxillofacial surgery clinics of North America[Diagnosis of a Chinese pedigree affected with Treacher-Collins syndrome due to a novel variant of TCOF1 gene through whole exome sequencing].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical geneticsTwo novel pathogenic variants in the TCOF1 found in two Chinese cases of Treacher Collins syndrome.
Molecular genetics & genomic medicineSystematic Review of Current Audiological Treatment Options for Patients with Treacher Collins Syndrome (TCS) and Surgical and Audiological Experiences of an Otorhinolaryngologist with TCS.
Journal of personalized medicineA feasible molecular diagnostic strategy for rare genetic disorders within resource-constrained environments.
Journal of community geneticsConsiderations in Eyelid Reconstruction in Treacher Collins Syndrome: A Scoping Review.
FACE (Thousand Oaks, Calif.)Clinical and molecular study of Egyptian patients with Treacher Collins syndrome.
Clinical dysmorphologySeverity of Mandibular Dysmorphology in Treacher Collins Syndrome for Stratification of Perioperative Airway Risk.
The Journal of craniofacial surgeryMeasurement of the normal mandible in neonates in east China.
Frontiers in pediatrics[TCOF1 Gene variation in Treacher Collins syndrome and evaluation of speech rehabilitation after bone bridge surgery].
Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology head and neck surgeryAssociated anomalies in Pierre Robin sequence.
American journal of medical genetics. Part AMandibular Dysmorphology and Clinical Presentation in Treacher Collins Syndrome.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationObstructive Sleep Apnea in Adults with Treacher Collins Syndrome is Related with Altered Anthropometric Measurements, Increased Blood Pressure and Impaired Quality of Life.
Sleep science (Sao Paulo, Brazil)Treacher Collins Syndrome Associated with Disproportionate Nervous System, Cardiovascular, Otologic Complications Among 1,114 Patients.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationTMJ Ankylosis Following Mandibular Distraction Osteogenesis: Management With Simultaneous Midface External Distraction and Bilateral Temporomandibular Joint Replacement.
The Journal of craniofacial surgeryPrenatal diagnosis of Treacher Collins syndrome: A case report and literature review.
International journal of gynaecology and obstetrics: the official organ of the International Federation of Gynaecology and ObstetricsDistinct Interaction Modes for the Eukaryotic RNA Polymerase Alpha-like Subunits.
Molecular and cellular biologyCraniofacial features of POLR3-related leukodystrophy caused by biallelic variants in POLR3A, POLR3B and POLR1C.
Journal of medical geneticsUse of adipose derived stem cells in Treacher Collins syndrome.
European review for medical and pharmacological sciencesDifficult or impossible facemask ventilation in children with difficult tracheal intubation: a retrospective analysis of the PeDI registry.
British journal of anaesthesiaPOLR1A variants underlie phenotypic heterogeneity in craniofacial, neural, and cardiac anomalies.
American journal of human geneticsBilateral Internal Carotid Artery Hypoplasia with Craniofacial Anomalies: A Case of Suspected Treacher Collins Syndrome.
NMC case report journalNucleolar protein treacle ribosome biogenesis factor 1 maintains gastric cancer cell proliferation by regulating R-loop associated DNA replication stress.
Journal of gastroenterology and hepatologyUseful Genioplasty for Repeated Recurrent Sleep Apnea of Congenital Anomalies and Its Evaluation.
Plastic and reconstructive surgery. Global openBonebridge Implantation in Treacher-Collins Syndrome With Conductive Hearing Loss-Case Report.
Ear, nose, & throat journalFull Mouth Dental Restoration on a Treacher-Collins Patient Without Intubation.
AANA journalAn automatic facial landmarking for children with rare diseases.
American journal of medical genetics. Part ATreacher Collins syndrome: A case report and review of literature.
Clinical case reportsBite Force, Masticatory Performance, and Nutritional Status of Adult Individuals With Treacher Collins Syndrome.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationTreacher Collins syndrome - a case report.
Case reports in perinatal medicineA Possible Incomplete Form of Treacher Collins Syndrome: A Case Report.
CureusA systematic review on Treacher Collins syndrome: Correlation between molecular genetic findings and clinical severity.
Clinical geneticsIntrafamilial Phenotypic Heterogeneity in a Chinese Family with a POLR1D p.Q31Rfs*10 Variant: A Challenge in Prenatal Diagnosis.
Molecular syndromologyA Novel Missense Variant in the TCOF1 Gene in one Chinese Case With Treacher Collins Syndrome.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationCombination CPAP and bilateral hypoglossal nerve stimulation for obstructive sleep apnea in Treacher Collins syndrome: first case report.
Journal of clinical sleep medicine : JCSM : official publication of the American Academy of Sleep MedicineComprehensive Serial Treatment of Treacher Collins Syndrome.
The Journal of craniofacial surgeryDynamic regulation and requirement for ribosomal RNA transcription during mammalian development.
Proceedings of the National Academy of Sciences of the United States of America[Analysis of pathogenic gene variant in two children with Treacher-Collins syndrome].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics[Genetic characteristics of microtia-associated syndromes in neonates].
Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatricsA clinically-relevant residue of POLR1D is required for Drosophila development.
Developmental dynamics : an official publication of the American Association of AnatomistsTreacle Sticks the Nucleolar Responses to DNA Damage Together.
Frontiers in cell and developmental biologyPrenatally diagnosed microdeletion in the TCOF1 gene in fetal congenital primary Treacher Collins Syndrome.
Taiwanese journal of obstetrics & gynecologyRNA Polymerases I and III in development and disease.
Seminars in cell & developmental biologyTessier's Cleft Number 6 Revisited: A Series of 26 new Cases and Literature Review of 44.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationOtodental syndrome: Case report and differential diagnosis with Treacher Collins syndrome.
European journal of paediatric dentistryThe Association of Treacher Collins Syndrome in the Media with Public Interest.
Facial plastic surgery : FPSCraniofacial Orthodontic Experience in CODA-Accredited Orthodontic Residency Programs.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationOcular and adnexal anomalies in Treacher Collins syndrome: a retrospective multicenter study.
Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and StrabismusCharacterization of Phenotypes and Treatment Modalities in Patients With Treacher-Collins Syndrome.
The Journal of craniofacial surgeryPhenotypic and Molecular Heterogeneity in Mandibulofacial Dysostoses: A Case Series From India.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationCraniofacial and Upper Airway Development in Patients With Treacher Collins Syndrome.
The Journal of craniofacial surgeryThree-dimensional comparison of mandibular morphology in young people with Treacher Collins syndrome and Pierre Robin sequence.
American journal of orthodontics and dentofacial orthopedics : official publication of the American Association of Orthodontists, its constituent societies, and the American Board of OrthodonticsEpidemiology of Rare Craniofacial Anomalies: Retrospective Western Australian Population Data Linkage Study.
The Journal of pediatricsIdentification of three novel TCOF1 mutations in patients with Treacher Collins Syndrome.
Human genome variationTreacher Collins Syndrome: Genetics, Clinical Features and Management.
GenesGenetics of craniofacial malformations.
Seminars in fetal & neonatal medicineDisability in a medieval village community: A unique case of facial dysmorphism.
International journal of paleopathologyIntraoral scanning of neonates and infants with craniofacial disorders: feasibility, scanning duration, and clinical experience.
European journal of orthodonticsAnesthetic Management of Treacher Collins Syndrome in an Outpatient Surgical Center.
The American journal of case reportsDescription of Total Population Hospital Admissions for Treacher Collins Syndrome in Australia.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationPhenotype Analysis and Genetic Study of Chinese Patients With Treacher Collins Syndrome.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationAlternative Inverted Middle Fossa Approach in Bonebridge Surgery. Technique, Results and Complications.
International archives of otorhinolaryngologyGeneration of a human induced pluripotent stem cell line (PSHi002-A) from a Treacher-Collins syndrome patient carrying a TCOF1 gene mutation (c.1966_1969dup).
Stem cell researchDrosophila to Explore Nucleolar Stress.
International journal of molecular sciencesAlloplastic Temporomandibular Joint Reconstruction in Congenital Craniofacial Deformities.
The Journal of craniofacial surgeryNegative Pressure Pulmonary Edema Related to Laryngospasm and Upper Airway Obstruction in a Patient With Treacher Collins Syndrome.
CureusDe novo TCOF1 mutation in Treacher Collins syndrome.
International journal of pediatric otorhinolaryngologyCounterclockwise Craniofacial Distraction Osteogenesis.
Clinics in plastic surgeryTreacher Collins Mandibular Distraction.
Clinics in plastic surgeryLong-term treatment outcomes from a patient's perspective with Treacher Collins syndrome.
BMJ case reportsA Recurrent Variant in POLR1B, c.3007C>T; p.Arg1003Cys, Associated with Atresia of the External Canal and Microtia in Treacher Collins Syndrome Type 4.
Molecular syndromologyNorthwest Indigenous Art and the Inspiring Spirits.
American journal of medical genetics. Part C, Seminars in medical geneticsTreacher Collins syndrome: Orthodontic treatment with mandibular distraction osteogenesis and orthognathic surgery.
American journal of orthodontics and dentofacial orthopedics : official publication of the American Association of Orthodontists, its constituent societies, and the American Board of OrthodonticsTreacher Collins Syndrome: A Case Report.
Mymensingh medical journal : MMJDifficult Airway Management in a Patient With Nicolaides-Baraitser Syndrome Who Had a Small Jaw and Limited Mouth Opening.
Anesthesia progressThe Role of TCOF1 Gene in Health and Disease: Beyond Treacher Collins Syndrome.
International journal of molecular sciences[Obstructive sleep apnea in microtia children with maxillofacial dysostosis].
Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology head and neck surgeryTreacher Collins Syndrome in the United States: Examining Incidence and Inpatient Interventions.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationExtracraniofacial anomalies in Treacher Collins syndrome: A multicentre study of 248 patients.
International journal of oral and maxillofacial surgeryCo-occurrence of orofacial clefts and clubfoot phenotypes in a sub-Saharan African cohort: Whole-exome sequencing implicates multiple syndromes and genes.
Molecular genetics & genomic medicineBerry-Treacher Collins Syndrome With Congenital Bell's Palsy and Unilateral Anotia: Tongue-Tie Release Under General Anesthesia.
Cureus[Clinical case: approach to the difficult airway in neonatology. Treacher-Collins syndrome].
Archivos argentinos de pediatria[Three-dimensional measurement analysis of midface morphology in Treacher Collins syndromes].
Zhongguo xiu fu chong jian wai ke za zhi = Zhongguo xiufu chongjian waike zazhi = Chinese journal of reparative and reconstructive surgery[Dental complications of the mandibular distraction osteogenesis].
StomatologiiaMolecules, Mechanisms, and Disorders of Self-Domestication: Keys for Understanding Emotional and Social Communication from an Evolutionary Perspective.
Biomolecules[Gene testing in Treacher Collins syndrome].
Orvosi hetilapTransversus abdominis plane block as a sole anesthetic technique for open appendectomy in patient with Treacher Collins syndrome: a case report.
Journal of surgical case reportsA novel nonsense mutation in the TCOF1 gene in one Chinese newborn with Treacher Collins syndrome.
International journal of pediatric otorhinolaryngologyFunctional outcomes in patients with facial dysostosis and severe upper airway obstruction.
International journal of oral and maxillofacial surgeryTreacher Collins syndrome: Clinical report and retrospective analysis of Chinese patients.
Molecular genetics & genomic medicineTargeted Next-Generation Sequencing in the Diagnosis of Facial Dysostoses.
Frontiers in geneticsAssessment of craniofacial and dental characteristics in individuals with treacher collins syndrome. A review.
Journal of stomatology, oral and maxillofacial surgeryHow Altered Ribosome Production Can Cause or Contribute to Human Disease: The Spectrum of Ribosomopathies.
CellsImage-guided surgical navigation for bone-conduction hearing device implant placement.
International journal of pediatric otorhinolaryngologyRibosomopathies: New Therapeutic Perspectives.
CellsCranial Neural Crest Cells and Their Role in the Pathogenesis of Craniofacial Anomalies and Coronal Craniosynostosis.
Journal of developmental biologyMutation analysis of TCOF1 gene in Chinese Treacher Collins syndrome patients.
Journal of clinical laboratory analysisIntraocular Migration of Porous Polyethylene Malar Implant Used for Treacher Collins Eyelid Reconstruction.
Ophthalmic plastic and reconstructive surgeryNecrotizing scleritis after strabismus surgery in Treacher Collins syndrome.
GMS ophthalmology cases134 Cases of Airway Management in Treacher Collins Syndrome: A Single-Institution, 27-Year Experience.
Plastic and reconstructive surgeryRe-focusing on Agnathia-Otocephaly complex.
Clinical oral investigationsComparison Between Treacher Collins Syndrome and Pierre Robin Sequence: A Cephalometric Study.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationTransient role of the middle ear as a lower jaw support across mammals.
eLifeIdentification of a novel gross deletion of TCOF1 in a Chinese prenatal case with Treacher Collins syndrome.
Molecular genetics & genomic medicineBroad-spectrum next-generation sequencing-based diagnosis of a case of Nager syndrome.
Journal of clinical laboratory analysisImaging of the Fetal Zygomatic Bone: A Key Role in Prenatal Diagnosis of First Branchial Arch Syndrome.
Journal of ultrasound in medicine : official journal of the American Institute of Ultrasound in MedicinePrevention methods for Treacher Collins syndrome: A systematic review.
International journal of pediatric otorhinolaryngologyTreacher Collins syndrome: A novel TCOF1 mutation and monopodial stapes.
Clinical otolaryngology : official journal of ENT-UK ; official journal of Netherlands Society for Oto-Rhino-Laryngology & Cervico-Facial SurgeryA novel familial mutation associated with Treacher Collins syndrome: A case report.
Biomedical reportsBurn-McKeown syndrome with biallelic promoter type 2 deletion in TXNL4A in two siblings.
American journal of medical genetics. Part AUse of the GlideScope® for enhanced airway challenges in Treacher Collins syndrome.
Indian journal of anaesthesiaClinical spectrum of POLR3-related leukodystrophy caused by biallelic POLR1C pathogenic variants.
Neurology. GeneticsRetrospective study of Langerhans cell histiocytosis in ear, nose and neck.
American journal of otolaryngology[Progress of diagnosis and treatment of upper respiratory obstruction in patients with Treacher Collins syndrome].
Zhongguo xiu fu chong jian wai ke za zhi = Zhongguo xiufu chongjian waike zazhi = Chinese journal of reparative and reconstructive surgeryThree-Dimensional Upper Airway Assessment in Treacher Collins Syndrome.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association[Congenital anomalies of the external ear].
Ugeskrift for laegerNeurocristopathies: Enigmatic Appearances of Neural Crest Cell-derived Abnormalities.
Radiographics : a review publication of the Radiological Society of North America, IncPOLR1B and neural crest cell anomalies in Treacher Collins syndrome type 4.
Genetics in medicine : official journal of the American College of Medical GeneticsVirtual 3D planning of osteotomies for craniosynostoses and complex craniofacial malformations.
Neuro-ChirurgieComprehensive analysis of syndromic hearing loss patients in Japan.
Scientific reportsVisual diagnosis in utero: Prenatal diagnosis of Treacher-Collins syndrome using a 3D/4D ultrasonography.
Taiwanese journal of obstetrics & gynecologyTCOF1 pathogenic variants identified by Whole-exome sequencing in Chinese Treacher Collins syndrome families and hearing rehabilitation effect.
Orphanet journal of rare diseases[Pathogenic genes and clinical therapeutic strategies for Treacher Collins syndrome].
Hua xi kou qiang yi xue za zhi = Huaxi kouqiang yixue zazhi = West China journal of stomatologyCorrelation Between Mandible and External Ear in Patients with Treacher-Collins Syndrome.
The Journal of craniofacial surgeryGenotype-phenotype variability in Chinese cases of Treacher Collins syndrome.
Acta oto-laryngologicaBilateral Parotid Gland Agenesis in Treacher Collins Syndrome: A Case Report.
Ear, nose, & throat journalAutosomal recessive Treacher Collins syndrome due to POLR1C mutations: Report of a new family and review of the literature.
American journal of medical genetics. Part AEndotracheal Intubation Complicated by a Palatal Tooth in a Patient With Treacher Collins Syndrome.
Anesthesia progressTreacher Collins Syndrome.
Clinics in plastic surgeryProteasomal inhibition attenuates craniofacial malformations in a zebrafish model of Treacher Collins Syndrome.
Biochemical pharmacologyDams TuLip-i™ is a useful device for performing fiberscopy-guided orotracheal intubation in a patient with Treacher Collins syndrome.
Journal of clinical anesthesiaRare ribosomopathies: insights into mechanisms of cancer.
Nature reviews. CancerUrgent Complex Intraoperative Reintubation in a Known Difficult Airway After Endotracheal Tube Damage: A Case Report.
A&A practiceDifficult airway management in a patient with Treacher Collins syndrome using two-part surgery.
Revista espanola de anestesiologia y reanimacionPreferential Associated Malformation in Patients With Anotia and Microtia.
The Journal of craniofacial surgeryDoes an ear deformity bring an adverse impact on quality of life of Treacher Collins syndrome individuals?
Ciencia & saude coletivaImaging Findings in Syndromes with Temporal Bone Abnormalities.
Neuroimaging clinics of North AmericaAssociações
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Referências e fontes
Bases de dados externas citadas neste artigo
Publicações científicas
Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.
- Integrating imaging and genomics in prenatal Treacher Collins syndrome: evidence for practice and policy.
- Genetic and Molecular Characterization of Treacher Collins Syndrome in Three Mexican Families.
- TCOF1 affects Golgi secretory pathway contributing to the angiogenesis in renal cancer.
- Evaluation of a Facial Dysmorphology Analysis Algorithm (Face2Gene) in Identifying Treacher Collins Syndrome Amongst Diverse Population.
- Congenital Temporomandibular Joint Ankylosis: Investigating Potential Genetic Etiologies with Whole Exome Sequencing.
- Hearing rehabilitation in patients with Treacher Collins syndrome.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:861(Orphanet)
- MONDO:0002457(MONDO)
- GARD:9124(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Artigo Wikipedia(Wikipedia)
- Q744790(Wikidata)
Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.
Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar
