Distúrbio hereditário que ocorre em duas formas: a forma completa (síndrome de Franceschetti) é caracterizada por inclinação antimongolóide das fissuras palpebrais, coloboma da pálpebra inferior, micrognatia e hipoplasia dos arcos zigomáticos e microtia. É transmitido como uma característica autossômica. A forma incompleta (síndrome de Treacher Collins) é caracterizada pelas mesmas anomalias em grau menos pronunciado. Ocorre esporadicamente, mas há suspeita de um modo de transmissão autossômico dominante. (Dorland, 27ª ed.)
Introdução
O que você precisa saber de cara
Distúrbio hereditário que ocorre em duas formas: a forma completa (síndrome de Franceschetti) é caracterizada por inclinação antimongolóide das fissuras palpebrais, coloboma da pálpebra inferior, micrognatia e hipoplasia dos arcos zigomáticos e microtia. É transmitido como uma característica autossômica. A forma incompleta (síndrome de Treacher Collins) é caracterizada pelas mesmas anomalias em grau menos pronunciado. Ocorre esporadicamente, mas há suspeita de um modo de transmissão autossômico dominante. (Dorland, 27ª ed.)
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 80 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 243 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
9 genes identificados com associação a esta condição.
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.
Hydrolyzes the second messenger cAMP, which is a key regulator of many important physiological processes
Apical cell membraneCytoplasmMembraneCytoplasm, cytoskeletonCytoplasm, cytoskeleton, microtubule organizing center, centrosome
This protein is a transcriptional activator. It may play a role in the formation of segmented structures of the embryo. May play an important role in the normal development of the vertebral column (By similarity)
Nucleus
Otofaciocervical syndrome 2, with T-cell deficiency
An autosomal recessive disorder characterized by facial dysmorphism, cup-shaped low-set ears, preauricular fistulas, hearing loss, branchial defects, skeletal anomalies including vertebral defects, low-set clavicles, winged scapulae, sloping shoulders, and mild intellectual disability. Some patients also exhibit altered thymus development with T-cell immunodeficiency.
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.
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.
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.
Regulatory subunit of the cAMP-dependent protein kinases involved in cAMP signaling in cells
Cell membrane
Carney complex 1
CNC is a multiple neoplasia syndrome characterized by spotty skin pigmentation, cardiac and other myxomas, endocrine tumors, and psammomatous melanotic schwannomas.
Receptor for endothelin-1. Mediates its action by association with G proteins that activate a phosphatidylinositol-calcium second messenger system. The rank order of binding affinities for ET-A is: ET1 > ET2 >> ET3
Cell membrane
Mandibulofacial dysostosis with alopecia
A form of mandibulofacial dysostosis, a disorder characterized by malar and mandibular hypoplasia, typically associated with abnormalities of the ears and eyelids. MFDA features include maxillary dysmorphism with dysplastic zygomatic arch, hypoplastic mandible, scalp alopecia, scant eyebrows and eyelashes, severe hypoplasia or aplasia of eyelids, small cupped dysplastic ears, conductive hearing loss, cleft palate, dental anomalies, micrognathia, and limited jaw mobility.
Functions both as protein phosphatase and as transcriptional coactivator for SIX1, and probably also for SIX2, SIX4 and SIX5 (By similarity). Tyrosine phosphatase that dephosphorylates 'Tyr-142' of histone H2AX (H2AXY142ph) and promotes efficient DNA repair via the recruitment of DNA repair complexes containing MDC1. 'Tyr-142' phosphorylation of histone H2AX plays a central role in DNA repair and acts as a mark that distinguishes between apoptotic and repair responses to genotoxic stress (PubMed
CytoplasmNucleus
Branchiootorenal syndrome 1
A syndrome characterized by branchial cleft fistulas or cysts, sensorineural and/or conductive hearing loss, pre-auricular pits, structural defects of the outer, middle or inner ear, and renal malformations.
Variantes genéticas (ClinVar)
553 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 156 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
37 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 — Disostose mandibulofacial
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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
Pesquisa e ensaios clínicos
Nenhum ensaio clínico registrado para esta condição.
Publicações mais relevantes
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.
The Phenotypic Spectrum of Miller Syndrome: Insight From a French Cohort.
Miller syndrome (MIM#263750) is a rare autosomal recessive acrofacial dysostosis associated with biallelic DHODH variants. Since the identification of the gene in 2010, five case reports have described a variable phenotype in only nine individuals from eight families. We present a cohort of 10 individuals from seven families affected by Miller syndrome, spanning the prenatal stage to 46 years of age. We report on the largest cohort of Miller syndrome to date, which highlights novel findings, including optic atrophy in multiple members of one consanguineous family. The typical postaxial limb defects, including the absence of the 5th digit, were consistent with prior descriptions, but we highlighted the frequent involvement of preaxial structures (thumb and tibial hypoplasia). A higher incidence of camptodactyly and the presence of facial nevus in two patients were notable findings. Congenital heart defects, primarily atrial septal defects, were common, and all living individuals had normal neurodevelopment. This cohort expands the phenotypic spectrum of Miller syndrome associated with variation in DHODH, presenting new findings such as preaxial involvement and facial nevus simplex. Optic atrophy in one family could prompt screening of other cases. Early prenatal diagnosis, particularly in the presence of cardinal limb and cardiac malformations, is crucial for management and genetic counseling.
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.
Lamb-Shaffer syndrome in a Chinese adolescent: A case report.
Lamb-Shaffer syndrome (LAMSHF) is a rare neurodevelopmental disorder caused by pathogenic variants in the SRY-related high-mobility group box 5 (SOX5) gene. Clinical features are heterogeneous, and novel variants continue to be reported, expanding the genotypic and phenotypic spectrum of the disease. A 15-year-old male presented with short stature, mild intellectual disability, epilepsy, and multiple congenital anomalies, including facial dysmorphism and right thumb syndactyly. Whole-exome sequencing identified a novel heterozygous variant in the SOX5 gene, c.1160G>A (p.Ser387Asn), located at 12p12.1. Although initially classified as a variant of uncertain significance according to ACMG criteria, its strong correlation with the clinical phenotype supported the diagnosis of LAMSHF. The patient has been maintained on levetiracetam for epilepsy management and is receiving dental care for maxillofacial deformities. A multidisciplinary rehabilitation approach is recommended. Seizures are well-controlled with no recurrence. The patient demonstrates stable cognitive and functional status under current supportive care. This case reports a novel SOX5 variant associated with LAMSHF and highlights the importance of genetic confirmation in patients with unexplained neurodevelopmental features to guide appropriate management and avoid unnecessary interventions.
A Novel Association Between Mandibulofacial Dysostosis with Microcephaly and Congenital Diaphragmatic Hernia.
Mandibulofacial dysostosis with microcephaly (MFDM) is a rare craniofacial syndrome due to pathogenic variants in EFTUD2. Affected patients may present with cleft palate, dysmorphic craniofacial features, short stature, microcephaly, developmental delay/intellectual disability, and variable congenital anomalies. Gastrointestinal anomalies include esophageal atresia and tracheoesophageal fistula. Congenital diaphragmatic hernia (CDH) has not been previously reported. Here, we present a novel case of MFDM with CDH in a late preterm female with multiple congenital malformations observed prenatally. Postnatal genetic testing was diagnostic for a heterozygous de novo pathogenic variant in EFTUD2, consistent with a diagnosis of MFDM.
Publicações recentes
Prenatal Ultrasound and Genetic Diagnosis of EFTUD2 Haploinsufficiency in Two Fetuses: A Case Series.
[Genetic analysis of a de novo EFTUD2 variant causing Mandibulofacial dysostosis with microcephaly in a fetus].
Evaluation of a Facial Dysmorphology Analysis Algorithm (Face2Gene) in Identifying Treacher Collins Syndrome Amongst Diverse Population.
A Novel Association Between Mandibulofacial Dysostosis with Microcephaly and Congenital Diaphragmatic Hernia.
Nager Syndrome Revisited: Integrating In Vivo and In Vitro Models to Decipher SF3B4-Dependent Tissue Coordination.
📚 EuropePMC225 artigos no totalmostrando 200
Evaluation of a Facial Dysmorphology Analysis Algorithm (Face2Gene) in Identifying Treacher Collins Syndrome Amongst Diverse Population.
Orthodontics & craniofacial researchLamb-Shaffer syndrome in a Chinese adolescent: A case report.
MedicineGenetic and Molecular Characterization of Treacher Collins Syndrome in Three Mexican Families.
International journal of molecular sciencesA Novel Association Between Mandibulofacial Dysostosis with Microcephaly and Congenital Diaphragmatic Hernia.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationNager Syndrome Revisited: Integrating In Vivo and In Vitro Models to Decipher SF3B4-Dependent Tissue Coordination.
WIREs mechanisms of diseaseAnalysis of Treacher Collins syndrome 4-associated mutations in Schizosaccharomyces pombe.
FEBS open bioRecurrent mandibulofacial dysostosis, Guion-Almeida type in consecutive pregnancies due to maternal mosaicism of a novel EFTUD2 variant: a case report and review of the literature.
Journal of medical case reportsA novel pathogenic variant in POLR1D (c.220dup, p.His74ProfsTer8) causes Treacher Collins syndrome type 2 in a Chinese patient: a case report.
BMC pediatricsThe Phenotypic Spectrum of Miller Syndrome: Insight From a French Cohort.
Clinical geneticsWhole-Exome Sequencing Revealed a Novel De Novo Pathogenic EFTUD2 Variant in Mandibulofacial Dysostosis, Guion-Almeida Type: Reinforcing Links to Choanal and Oesophageal Atresia.
International journal of developmental neuroscience : the official journal of the International Society for Developmental NeuroscienceLong-read DNA and RNA sequencing reveal an intronic retrotransposon insertion in TCOF1 causing Treacher Collins syndrome.
HGG advancesRNA Polymerase I Dysfunction Underlying Craniofacial Syndromes: Integrated Genetic Analysis Reveals Parallels to 22q11.2 Deletion Syndrome.
GenesEvaluation of masticatory function in the pediatric and adult populations with Treacher Collins syndrome.
Journal of oral biology and craniofacial researchNeurodevelopmental trajectories and mis-splicing in Chinese patients caused by novel EFTUD2 mutations.
GeneLow-Density Instrumentation for Scoliosis Correction in Monozygotic Twins With Treacher Collins Syndrome: A Case Report.
JBJS case connectorPTBP3 Associated With 9q32 Locus Is a Candidate Gene for Nager Syndrome.
Birth defects researchFacial 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 surgeryA novel EFTUD2 splicing variant causing mandibulofacial dysostosis with microcephaly: a case report.
Translational pediatricsIn silico analysis identified potential interaction between glutathione and spliceosome in Nager Syndrome.
Free radical biology & medicineClarifying the Relationship Between Orbito-Zygomatic and Mandibular Dysmorphology in Treacher Collins Syndrome.
The Journal of craniofacial surgeryEFTUD2 Regulates Cortical Morphogenesis via Modulation of Caspase-3 and Aifm1 Splicing Pathways.
Advanced science (Weinheim, Baden-Wurttemberg, Germany)Addressing the Diagnostic Odyssey for Adults With Neurodevelopmental Disabilities: Case Study of an Individual With Mandibulofacial Dysostosis With Microcephaly.
American journal of medical genetics. Part ANovel nonsense mutation in the TCOF1 gene associated with treacher collins syndrome: A case report.
Science progressUnveiling the Phenotypic Spectrum of Miller Syndrome: A Systematic Review.
The Journal of craniofacial surgeryManagement 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)Deletion of sf3b4 causes splicing defects and gene dysregulation that disrupt craniofacial development and survival.
Disease models & mechanismsSpliceosome protein EFTUD2: A potential pathogenetic factor in tumorigenesis and some developmental defects (Review).
Molecular medicine reportsHuman stem cell model of neural crest cell differentiation reveals a requirement of SF3B4 in survival, maintenance, and differentiation.
Developmental dynamics : an official publication of the American Association of Anatomists[Perioperative management of cochlear implantation and analysis on the influencing factors of efficacy in patients diagnosed as hereditary syndromic hearing loss].
Zhonghua er bi yan hou tou jing wai ke za zhi = Chinese journal of otorhinolaryngology head and neck surgeryDeciphering 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 tomographyImaging of Treacher Collins syndrome: A case report.
Radiology case reportsMolecular and Clinical Heterogeneity in Hungarian Patients with Treacher Collins Syndrome-Identification of Two Novel Mutations by Next-Generation Sequencing.
International journal of molecular sciencesMost 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 surgeryThe First Patient with Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome Caused by De Novo c.423+4916 T>C ZRS Variant: A Case Report.
International journal of molecular sciencesUntangling Zebrafish Genetic Annotation: Addressing Complexities and Nomenclature Issues in Orthologous Evaluation of TCOF1 and NOLC1.
Journal of molecular evolutionRPL26 variants: A rare cause of Diamond-Blackfan anemia syndrome with multiple congenital anomalies at the forefront.
Genetics in medicine : official journal of the American College of Medical GeneticsDual diagnosis of achondroplasia and mandibulofacial dysostosis with microcephaly.
BMC medical genomicsSpliceosomal GTPase Eftud2 deficiency-triggered ferroptosis leads to Purkinje cell degeneration.
NeuronPeriorbital Outcomes and Vision Risk Stratification in Treacher Collins Syndrome.
Plastic and reconstructive surgeryArtificial intelligence-based diagnosis in fetal pathology using external ear shapes.
Prenatal diagnosisPossible germline mosaicism in a pedigree with Treacher Collins syndrome: A case report and brief review.
Science progressAtypical mandibulofacial dysostosis with microcephaly diagnosed through the identification of a novel pathogenic mutation in EFTUD2.
Molecular genetics & genomic medicinep53 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 reportsTranscriptomic analysis reveals mitochondrial dysfunction in the pathogenesis of Nager syndrome in sf3b4-depleted zebrafish.
Biochimica et biophysica acta. Molecular basis of diseaseA novel intronic TCOF1 pathogenic variant in a Chinese family with Treacher Collins syndrome.
BMC medical genomics[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 medicineCorrelation of Cerebrospinal Fluid Total Protein and Serum Neutrophil-to-Lymphocyte Ratio with Clinical Outcomes of Guillain-Barre Syndrome Variants.
Journal of the College of Physicians and Surgeons--Pakistan : JCPSPChildren with Rare Nager Syndrome-Literature Review, Clinical and Physiotherapeutic Management.
GenesPrenatal Diagnosis of Fetal Micrognathia at 11-20 Weeks of Gestation: A Prospective Observation Study.
Journal of ultrasound in medicine : official journal of the American Institute of Ultrasound in MedicineFirst and second branchial arch involvement in mandibulofacial dysostosis Guion-Almeida type.
European journal of paediatric dentistryAI-based diagnosis in mandibulofacial dysostosis with microcephaly using external ear shapes.
Frontiers in pediatricsClinical 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 surgery[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 surgeryMiller Fischer syndrome after COVID-19 infection and vaccine: a systematic review.
Acta neurologica BelgicaMandibular 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 AssociationPrenatal 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 ObstetricsUse of adipose derived stem cells in Treacher Collins syndrome.
European review for medical and pharmacological sciencesAssessment of a novel variation in DHODH gene causing Miller syndrome: The first report in Chinese population.
Molecular genetics & genomic medicinePOLR1A variants underlie phenotypic heterogeneity in craniofacial, neural, and cardiac anomalies.
American journal of human geneticsHospitalizations from Birth to 28 Years in a Population Cohort of Individuals Born with Five Rare Craniofacial Anomalies in Western Australia.
The Journal of pediatricsEsophageal Atresia With or Without Tracheoesophageal Fistula: Comorbidities, Genetic Evaluations, and Neonatal Outcomes.
CureusBonebridge Implantation in Treacher-Collins Syndrome With Conductive Hearing Loss-Case Report.
Ear, nose, & throat journalAwareness about Patterson syndrome among dental students.
Journal of advanced pharmaceutical technology & researchFull 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 AMandibulofacial dysostosis with alopecia results from ETAR gain-of-function mutations via allosteric effects on ligand binding.
The Journal of clinical investigationBite 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 medicineBerry syndrome: a rare cause of cardiac failure in the early neonatal period.
BMJ case reportsA Possible Incomplete Form of Treacher Collins Syndrome: A Case Report.
CureusA Brief Analysis on Clinical Severity of Mandibulofacial Dysostosis Guion-Almeida Type.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationRetrospective evaluation of clinical and molecular data of 148 cases of esophageal atresia.
American journal of medical genetics. Part AA 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 MedicineThe Core Splicing Factors EFTUD2, SNRPB and TXNL4A Are Essential for Neural Crest and Craniofacial Development.
Journal of developmental biologyComprehensive 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 AmericaThe pZRS non-coding regulatory mutation resulting in triphalangeal thumb-polysyndactyly syndrome changes the pattern of local interactions.
Molecular genetics and genomics : MGG[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 geneticsA de novo start-loss in EFTUD2 associated with mandibulofacial dysostosis with microcephaly: case report.
Cold Spring Harbor molecular case studiesDental and health aspects in the co-occurrence of Treacher Collins and Down syndromes: Case report.
Special care in dentistry : official publication of the American Association of Hospital Dentists, the Academy of Dentistry for the Handicapped, and the American Society for Geriatric DentistryA clinically-relevant residue of POLR1D is required for Drosophila development.
Developmental dynamics : an official publication of the American Association of AnatomistsPrenatally diagnosed microdeletion in the TCOF1 gene in fetal congenital primary Treacher Collins Syndrome.
Taiwanese journal of obstetrics & gynecologyA novel de novo missense mutation in EFTUD2 identified by whole-exome sequencing in mandibulofacial dysostosis with microcephaly.
Journal of clinical laboratory analysisClinical and molecular delineation of mandibulofacial dysostosis with microcephaly in six Korean patients: When to consider EFTUD2 analysis?
European journal of medical geneticsAssociation between craniofacial anomalies, intellectual disability and autism spectrum disorder: Western Australian population-based study.
Pediatric researchSF3B4 Frameshift Variants Represented a More Severe Clinical Manifestation in Nager Syndrome.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationTessier'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 : FPSThe Role of Splicing Factor SF3B4 in Congenital Diseases and Tumors.
Discovery medicineProtein-lipid interactions of human dihydroorotate dehydrogenase and three mutants associated with Miller syndrome.
Nucleosides, nucleotides & nucleic acidsProtein production, kinetic and biophysical characterization of three human dihydroorotate dehydrogenase mutants associated with Miller syndrome.
Nucleosides, nucleotides & nucleic acidsOcular 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 StrabismusPrenatal features of mandibulofacial dysostosis Guion-Almeida Type.
Journal of medicine and life[Clinical case analysis and literature review of mandibulofacial dysostosis with microcephaly syndrome].
Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology head and neck surgeryCharacterization 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 surgeryBrain MRI findings in mandibulofacial dysostosis caused by EFTUD2 haploinsufficiency: a case report with polymicrogyria and dysmorphic caudate nuclei.
Clinical dysmorphologyThree-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 OrthodonticsTreacher Collins Syndrome: Genetics, Clinical Features and Management.
GenesDisability in a medieval village community: A unique case of facial dysmorphism.
International journal of paleopathologyAnesthetic Management of Treacher Collins Syndrome in an Outpatient Surgical Center.
The American journal of case reportsInvestigation of Genetic Causes in a Developmental Disorder: Oculoauriculovertebral Spectrum.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationDescription of Total Population Hospital Admissions for Treacher Collins Syndrome in Australia.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationA novel intronic variant in PIGB in Acrofrontofacionasal dysostosis type 1 patients expands the spectrum of phenotypes associated with GPI biosynthesis defects.
BonePhenotype Analysis and Genetic Study of Chinese Patients With Treacher Collins Syndrome.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association[Genetic analysis of a rare fetus with mandibulofacial dysostosis Guion-Almeida type].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical geneticsGeneration 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 researchDe 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 reportsMolecular mechanisms of hearing loss in Nager syndrome.
Developmental biologyTreacher 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 : MMJThe Role of TCOF1 Gene in Health and Disease: Beyond Treacher Collins Syndrome.
International journal of molecular sciencesTreacher 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 surgeryThe role of double-step advancement genioplasty and bilateral coronoidectomy in Nager Syndrome: A case report.
Special care in dentistry : official publication of the American Association of Hospital Dentists, the Academy of Dentistry for the Handicapped, and the American Society for Geriatric DentistryMutation in Eftud2 causes craniofacial defects in mice via mis-splicing of Mdm2 and increased P53.
Human molecular geneticsThe Role of the U5 snRNP in Genetic Disorders and Cancer.
Frontiers in geneticsNager syndrome in patient lacking acrofacial dysostosis: Expanding the phenotypic spectrum of SF3B4-related disease.
American journal of medical genetics. Part A[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 surgeryMolecules, 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 hetilapA 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 medicineMandibulofacial dysostosis with microcephaly: An expansion of the phenotype via parental survey.
American journal of medical genetics. Part AA 300-kb microduplication of 7q36.3 in a patient with triphalangeal thumb-polysyndactyly syndrome combined with congenital heart disease and optic disc coloboma: a case report.
BMC medical genomicsAssessment of craniofacial and dental characteristics in individuals with treacher collins syndrome. A review.
Journal of stomatology, oral and maxillofacial surgeryInfant mandibular distraction in absence of ascending ramus: case series.
Oral and maxillofacial surgeryMandibulofacial Dysostosis Attributed to a Recessive Mutation of CYP26C1 in Hereford Cattle.
GenesHow Altered Ribosome Production Can Cause or Contribute to Human Disease: The Spectrum of Ribosomopathies.
CellsA de novo synonymous variant in EFTUD2 disrupts normal splicing and causes mandibulofacial dysostosis with microcephaly: case report.
BMC medical geneticsMutation analysis of TCOF1 gene in Chinese Treacher Collins syndrome patients.
Journal of clinical laboratory analysisFirst-trimester detection of micrognathia as a presentation of mandibulofacial dysostosis with microcephaly.
Journal of obstetrics and gynaecology : the journal of the Institute of Obstetrics and GynaecologyLarge duplication in LMBR1 gene in a large Chinese pedigree with triphalangeal thumb polysyndactyly syndrome.
American journal of medical genetics. Part A134 Cases of Airway Management in Treacher Collins Syndrome: A Single-Institution, 27-Year Experience.
Plastic and reconstructive surgeryComparison Between Treacher Collins Syndrome and Pierre Robin Sequence: A Cephalometric Study.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationIdentification of a novel gross deletion of TCOF1 in a Chinese prenatal case with Treacher Collins syndrome.
Molecular genetics & genomic medicineA novel EFTUD2 mutation identified an adult male with mandibulofacial dysostosis Guion-Almeida type.
Clinical dysmorphologyBroad-spectrum next-generation sequencing-based diagnosis of a case of Nager syndrome.
Journal of clinical laboratory analysisSpliceosomopathies: Diseases and mechanisms.
Developmental dynamics : an official publication of the American Association of AnatomistsNovel Splice Site Pathogenic Variant of EFTUD2 Is Associated with Mandibulofacial Dysostosis with Microcephaly and Extracranial Symptoms in Korea.
Diagnostics (Basel, Switzerland)Imaging 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 SurgeryEFTUD2 missense variants disrupt protein function and splicing in mandibulofacial dysostosis Guion-Almeida type.
Human mutationA novel familial mutation associated with Treacher Collins syndrome: A case report.
Biomedical reportsLoss-of-function of Endothelin receptor type A results in Oro-Oto-Cardiac syndrome.
American journal of medical genetics. Part AAssociated syndromes in patients with Pierre Robin Sequence.
International journal of pediatric otorhinolaryngologyCatel-Manzke syndrome without Manzke dysostosis.
American journal of medical genetics. Part A[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 surgeryEFTUD2 gene deficiency disrupts osteoblast maturation and inhibits chondrocyte differentiation via activation of the p53 signaling pathway.
Human genomicsThree-Dimensional Upper Airway Assessment in Treacher Collins Syndrome.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationNeurocristopathies: Enigmatic Appearances of Neural Crest Cell-derived Abnormalities.
Radiographics : a review publication of the Radiological Society of North America, Inc[Breech Presentation: CNGOF Guidelines for Clinical Practice - Benefits and Risks for the Neonate and Child of Planned Vaginal Delivery versus Elective Cesarean Section].
Gynecologie, obstetrique, fertilite & senologiePOLR1B and neural crest cell anomalies in Treacher Collins syndrome type 4.
Genetics in medicine : official journal of the American College of Medical GeneticsPrenatal diagnosis of micrognathia in 41 fetuses: Retrospective analysis of outcome and genetic etiologies.
American journal of medical genetics. Part AMandibulofacial dysostosis with microcephaly: a syndrome to remember.
BMJ case 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 diseasesDisease modeling of core pre-mRNA splicing factor haploinsufficiency.
Human molecular geneticsLoss of function mutation of Eftud2, the gene responsible for mandibulofacial dysostosis with microcephaly (MFDM), leads to pre-implantation arrest in mouse.
PloS oneA Case of Nager Syndrome Diagnosed Before Birth.
Acta medica Okayama[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 AThe final demise of Rodriguez lethal acrofacial dysostosis: A case report 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 pharmacologyOpen descending aortic replacement after Thoraflex™ hybrid graft implantation.
European journal of cardio-thoracic surgery : official journal of the European Association for Cardio-thoracic SurgeryDams TuLip-i™ is a useful device for performing fiberscopy-guided orotracheal intubation in a patient with Treacher Collins syndrome.
Journal of clinical anesthesiaUrgent 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 coletivaAssessment of Bioabsorbable Hydroxyapatite for Cranial Defect in Children.
The Journal of craniofacial surgeryA Novel Human Pluripotent Stem Cell-Derived Neural Crest Model of Treacher Collins Syndrome Shows Defects in Cell Death and Migration.
Stem cells and developmentNovel De Novo EFTUD2 Mutations in 2 Cases With MFDM, Initially Suspected to Have Alternative Craniofacial Diagnoses.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationAssociações
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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.
- Genetic and Molecular Characterization of Treacher Collins Syndrome in Three Mexican Families.
- The Phenotypic Spectrum of Miller Syndrome: Insight From a French Cohort.
- Evaluation of a Facial Dysmorphology Analysis Algorithm (Face2Gene) in Identifying Treacher Collins Syndrome Amongst Diverse Population.
- Lamb-Shaffer syndrome in a Chinese adolescent: A case report.
- A Novel Association Between Mandibulofacial Dysostosis with Microcephaly and Congenital Diaphragmatic Hernia.The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association· 2026· PMID 41739502mais citado
- Prenatal Ultrasound and Genetic Diagnosis of EFTUD2 Haploinsufficiency in Two Fetuses: A Case Series.
- [Genetic analysis of a de novo EFTUD2 variant causing Mandibulofacial dysostosis with microcephaly in a fetus].
- Nager Syndrome Revisited: Integrating In Vivo and In Vitro Models to Decipher SF3B4-Dependent Tissue Coordination.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:155899(Orphanet)
- MONDO:0015483(MONDO)
- GARD:19980(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Artigo Wikipedia(Wikipedia)
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.
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