Duas síndromes de malformações orais, faciais e digitais. O tipo I (síndrome de Papillon-Leage e Psaume, síndrome de Gorlin-Psaume) é herdado como um traço dominante ligado ao X e é encontrado apenas em mulheres e homens XXY. O tipo II (síndrome de Mohr) é herdado como um traço autossômico recessivo.
Introdução
O que você precisa saber de cara
A **síndrome orofaciodigital** é uma condição congênita rara que causa alterações no formato do rosto, na boca, nos dentes e nos dedos das mãos e pés. As famílias costumam notar sinais desde cedo, como dedos a mais ou curvados, dentes ausentes e dificuldades para alimentar a criança. Não há uma medicação curativa específica, mas o acompanhamento médico corrige malformações e dá suporte ao desenvolvimento. No Brasil, a condição não consta na lista oficial de PCDTs de doenças raras do SUS, ocorrendo o cuidado na rede de saúde de acordo com cada sintoma.
Duas síndromes de malformações orais, faciais e digitais. O tipo I (síndrome de Papillon-Leage e Psaume, síndrome de Gorlin-Psaume) é herdado como um traço dominante ligado ao X e é encontrado apenas em mulheres e homens XXY. O tipo II (síndrome de Mohr) é herdado como um traço autossômico recessivo.
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 137 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 373 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
20 genes identificados com associação a esta condição.
Curadoria gene-doença
fontes oficiaisJoubert syndrome 20
A disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy and renal disease.
Joubert syndrome 22
A disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy, renal disease, liver fibrosis, and polydactyly.
Retinitis pigmentosa 31
A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well.
Joubert syndrome 36
A form of Joubert syndrome, a disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy, renal disease, liver fibrosis, and polydactyly. JBTS36 inheritance is autosomal recessive.
Orofaciodigital syndrome 1
A form of orofaciodigital syndrome, a group of heterogeneous disorders characterized by abnormalities in the oral cavity, face, and digits and associated phenotypic abnormalities that lead to the delineation of various subtypes. OFD1 is X-linked dominant syndrome, lethal in males. Craniofacial findings consist of facial asymmetry, hypertelorism, median cleft, or pseudocleft of the upper lip, hypoplasia of the alae nasi, oral clefts and abnormal frenulea, tongue anomalies (clefting, cysts, hamartoma), and anomalous dentition involving missing or extra teeth. Asymmetric brachydactyly and/or syndactyly of the fingers and toes occur frequently. Approximately 50% of OFD1 females have some degree of intellectual disability. Some patients have structural central nervous system anomalies such as agenesis of the corpus callosum, cerebellar agenesis, or a Dandy-Walker malformation. Patients with OFD1 can develop fibrocystic disease of the liver and pancreas, in addition to polycystic kidneys.
Joubert syndrome 2
A disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy and renal disease.
Orofaciodigital syndrome 18
A form of orofaciodigital syndrome, a group of heterogeneous disorders characterized by malformations of the oral cavity, face and digits, and associated phenotypic abnormalities that lead to the delineation of various subtypes. OFD18 is an autosomal recessive form characterized by short stature, brachymesophalangy, pre- and postaxial polysyndactyly, and stocky femoral necks, as well as oral anomalies and dysmorphic facial features.
Orofaciodigital syndrome 15
A form of orofaciodigital syndrome, a group of heterogeneous disorders characterized by malformations of the oral cavity, face and digits, and associated phenotypic abnormalities that lead to the delineation of various subtypes. OFD15 features include facial dysmorphism, lobulated tongue, clefting of the alveolar ridges, left hand postaxial polydactyly, broad right hallux and left hallux duplication, and intermittent respiratory difficulty. Brain anomalies include vermis hypoplasia with molar tooth sign, agenesis of corpus callosum, and ventricular dilation. OFD15 inheritance is autosomal recessive.
Short-rib thoracic dysplasia 6 with or without polydactyly
A form of short-rib thoracic dysplasia, a group of autosomal recessive ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. Polydactyly is variably present. Non-skeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of the disease are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life. Disease spectrum encompasses Ellis-van Creveld syndrome, asphyxiating thoracic dystrophy (Jeune syndrome), Mainzer-Saldino syndrome, and short rib-polydactyly syndrome.
Short-rib thoracic dysplasia 20 with polydactyly
A form of short-rib thoracic dysplasia, a group of autosomal recessive ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. Polydactyly is variably present. Non-skeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of the disease are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life. Disease spectrum encompasses Ellis-van Creveld syndrome, asphyxiating thoracic dystrophy (Jeune syndrome), Mainzer-Saldino syndrome, and short rib-polydactyly syndrome.
Orofaciodigital syndrome 4
A form of orofaciodigital syndrome, a group of heterogeneous disorders characterized by malformations of the oral cavity, face and digits, and associated phenotypic abnormalities that lead to the delineation of various subtypes. OFD4 patients have tongue nodules, multiple frenulae, broad flat nose, hypertelorism, and short rib polydactyly with tibial dysplasia (Majewski syndrome). The presence of severe tibial aplasia differentiates OFD4 from OFD1. Additional features of cystic dysplastic kidneys and brain malformation, including occipital encephalocele, are observed in severely affected patients.
Orofaciodigital syndrome 21
A form of orofaciodigital syndrome, a group of heterogeneous disorders characterized by malformations of the oral cavity, face and digits, and associated phenotypic abnormalities that lead to the delineation of various subtypes. OFD21 is an X-linked recessive form characterized by postaxial polydactyly of the hands, hallux duplication, palatal defects, fused incisors, accessory oral frenula and tongue nodules, in association with brain anomalies that range from pituitary anomalies to alobar holoprosencephaly.
Meckel syndrome 13
A form of Meckel syndrome, a disorder characterized by a combination of renal cysts and variably associated features including developmental anomalies of the central nervous system (typically encephalocele), hepatic ductal dysplasia and cysts, and polydactyly.
Orofaciodigital syndrome 19
A form of orofaciodigital syndrome, a group of heterogeneous disorders characterized by malformations of the oral cavity, face and digits, and associated phenotypic abnormalities that lead to the delineation of various subtypes. OFD19 is an autosomal recessive form characterized by tongue nodules, dental and digital anomalies, narrow high-arched or cleft palate, and retrognathia. Some patients have notching of the upper or lower lip.
Orofaciodigital syndrome 9
A form of orofaciodigital syndrome, a group of heterogeneous disorders characterized by malformations of the oral cavity, face and digits, and associated phenotypic abnormalities that lead to the delineation of various subtypes. OFD9 is an autosomal recessive form characterized by a variable phenotype. Clinical features are midline defects, including abnormal pituitary development that results in variable pituitary hormone deficiencies, facial dysmorphic features including frontal bossing and hypertelorism, and variable eye defects including microphthalmia, coloboma, and retinal dystrophy. Affected individuals manifest variable psychomotor development.
Orofaciodigital syndrome 14
A form of orofaciodigital syndrome, a group of heterogeneous disorders characterized by malformations of the oral cavity, face and digits, and associated phenotypic abnormalities that lead to the delineation of various subtypes. OFD14 patients show severe microcephaly, cerebral malformations the molar tooth sign, and intellectual disability in addition to canonical OFDS features.
Joubert syndrome 17
A disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy and renal disease.
Orofaciodigital syndrome 5
A form of orofaciodigital syndrome, a group of heterogeneous disorders characterized by malformations of the oral cavity, face and digits, and associated phenotypic abnormalities that lead to the delineation of various subtypes. OFD5 patients show the core features of cleft palate, lobulated tongue, and polydactyly. Additional features include frontal bossing and intellectual disability.
Variantes genéticas (ClinVar)
423 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 1.638 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
19 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 orofaciodigital
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Publicações mais relevantes
Missense Variants in the Second Transmembrane Domain of TMEM17 Disrupt Its Stability and Function and Lead to a Wide Phenotypic Spectrum of Ciliopathies.
Ciliopathies are rare genetic disorders characterized by significant genetic and phenotypic variability. Over 140 proteins localized to primary cilia, which are sensory organelles essential for vertebrate development, are implicated. TMEM17 encodes a transmembrane protein at the ciliary transition zone and was previously proposed as a potential ciliopathy gene, based on reports of individuals from two families with orofaciodigital syndrome type 6 (OFD6) and Joubert syndrome (JS). Here, we report two unrelated fetuses with occipital encephalocele, polydactyly, and kidney cysts, in whom exome sequencing identified a founder homozygous missense variant (Arg94Trp) in TMEM17, affecting a highly conserved residue. This expands the TMEM17-associated phenotypic spectrum to include Meckel syndrome (MKS). Comprehensive functional analyses of all known TMEM17 variants, using patient tissues/cells and a C. elegans model system, demonstrate a loss-of-function mechanism. Our study reveals severe functional consequences, including TMEM17 destabilization and mislocalization, anomalies in cilium composition and function, and abrogation of Sonic Hedgehog signaling. These experiments confirm the pathogenicity of all TMEM17 variants and underscore its essential role at the ciliary transition zone. Collectively, our findings establish TMEM17 as a bona fide ciliopathy gene, associated with a wide phenotypic spectrum ranging from viable syndromes (OFD6 and JS) to a fetal-lethal condition (MKS).
RNA Sequencing for Rare Disease Diagnosis in a South African Family: A Novel Exon Elongation Event in OFD1.
The luminal ring protein C2CD3 acts as a radial in-to-out organizer of the distal centriole and appendages.
Centrioles are polarized microtubule-based structures with appendages at their distal end that are essential for cilia formation and function. The protein C2CD3 is critical for distal appendage assembly, with mutations linked to orofaciodigital syndrome and other ciliopathies. However, its precise molecular role in appendage recruitment remains unclear. Using ultrastructure expansion microscopy (U-ExM) and iterative U-ExM on human cells, together with in situ cryo-electron tomography (cryo-ET) on mouse tissues, we reveal that C2CD3 adopts a radially symmetric 9-fold organization within the centriole's distal lumen. We show that the C-terminal region of C2CD3 localizes close to a ~100 nm luminal ring structure consisting of ~27 nodes, while its N-terminal region localizes close to a hook-like structure that attaches to the A-microtubule as it extends from the centriole interior to exterior. This hook structure is adjacent to the DISCO complex (MNR/CEP90/OFD1), which marks future appendage sites. C2CD3 depletion disrupts not only the recruitment of the DISCO complex via direct interaction with MNR but also destabilizes the luminal ring network composed of C2CD3/SFI1/centrin-2/CEP135/NA14, as well as the distal microtubule tip protein CEP162. This reveals an intricate "in-to-out" molecular hub connecting the centriolar lumen, distal microtubule cap, and appendages. Although C2CD3 loss results in shorter centrioles and appendage defects, key structural elements remain intact, permitting continued centriole duplication. We propose that C2CD3 forms the luminal ring structure and extends radially to the space between triplet microtubules, functioning as an architectural hub that scaffolds the distal end of the centriole, orchestrating its assembly and directing appendage formation.
Use of patient-derived cell models for characterization of compound heterozygous hypomorphic C2CD3 variants in a patient with isolated nephronophthisis.
Primary ciliopathies are a heterogeneous group of rare disorders predominantly caused by autosomal-recessive genetic variants that disrupt non-motile ciliary function. They often manifest as a syndromic phenotype, frequently involving the kidney. Biallelic pathogenic variants in C2CD3 disrupt ciliogenesis and Sonic Hedgehog (SHH) signaling, resulting in a severe ciliopathy (Orofaciodigital syndrome XIV, OMIM 615948). We present compound heterozygous missense variants in C2CD3 that partially disrupt ciliary function in a patient with isolated renal disease. Exome sequencing identified biallelic C2CD3 missense variants (p.Pro168Leu; p.Thr2079Met). Patient-derived fibroblasts and urinary renal epithelial cells (URECs), and human RPE-1 C2CD3 knockout (KO) cell-lines were used for in vitro studies. Cilia length was significantly shorter in patient-derived fibroblasts compared to an unaffected sibling (2.309 vs. 2.850 μm, P < 0.0001), while URECs showed significantly shortened cilia (2.068 vs. 2.807 μm, P < 0.0001) and a 40.8% reduction in ciliation (P < 0.001). The latter was not observed in fibroblasts, suggesting a kidney-specific effect. SHH signaling was dysregulated in patient cells as expression of GLI3 activator protein and GLI1 mRNA was significantly reduced. C2CD3 localization to the basal body was significantly reduced in patient URECs. Finally, rescue experiments in C2CD3 KO RPE-1 cells corroborated these findings by demonstrating a reduced capacity to restore ciliogenesis for each variant. Biallelic hypomorphic missense variants in C2CD3 may contribute to an isolated nephronophthisis phenotype with impaired ciliogenesis and SHH signaling. Our findings underscore the importance of functional testing to characterize candidate gene-disease relationships in patients with nephropathy of unknown etiology.
Expanding the phenotype associated with biallelic SCNM1 variants.
Oral-facial-digital (OFD) syndrome comprises a number of genetically and clinically heterogeneous ciliopathies characterized by distinctive craniofacial, oral cavity and extremities abnormalities. Recently, SCNM1, encoding a protein component of the minor spliceosome, was associated with OFD syndrome. Until now, only three families had been described with pathogenic variants in this gene. Using exome sequencing, we identified biallelic variants in SCNM1 in five additional patients diagnosed with OFD syndrome from four unrelated families. Clinical evaluation of these patients revealed novel features linked to SCNM1 including neurodevelopmental disorders, oculomotor apraxia and skeletal abnormalities. The pathogenicity of a missense variant affecting the C2H2 zinc finger domain of SCNM1, p.(His68Arg), was verified in fibroblasts from a patient with this variant in the homozygous state. These cells exhibited comparable defects to those previously reported in cells lacking SCNM1, including diminished expression of several U12-intron containing genes such as TMEM107 and CIBAR1, two ciliary genes previously associated with OFD syndrome and postaxial polydactyly, respectively, and abnormal primary cilia. In addition, the mutant version of SCNM1 harboring the p.(His68Arg) change was unable to rescue the phenotype of SCNM1-deficient cells. This work expands the molecular and clinical landscape of the SCNM1-related condition and shows that pathogenic variants in this gene cause a complex phenotype overlapping with OFD types II and VI. Our data improves understanding of the ciliopathy linked to SCNM1, which is of paramount importance in terms of genetic counselling, particularly with regard to the risks associated with neurodevelopmental disorders. The online version contains supplementary material available at 10.1186/s40246-025-00868-w.
Publicações recentes
RNA Sequencing for Rare Disease Diagnosis in a South African Family: A Novel Exon Elongation Event in OFD1.
The luminal ring protein C2CD3 acts as a radial in-to-out organizer of the distal centriole and appendages.
Expanding the phenotype associated with biallelic SCNM1 variants.
Missense Variants in the Second Transmembrane Domain of TMEM17 Disrupt Its Stability and Function and Lead to a Wide Phenotypic Spectrum of Ciliopathies.
The Luminal Ring Protein C2CD3 Acts as a Radial In-to-Out Organizer of the Distal Centriole and Appendages.
📚 EuropePMC86 artigos no totalmostrando 62
RNA Sequencing for Rare Disease Diagnosis in a South African Family: A Novel Exon Elongation Event in OFD1.
American journal of medical genetics. Part AThe luminal ring protein C2CD3 acts as a radial in-to-out organizer of the distal centriole and appendages.
PLoS biologyExpanding the phenotype associated with biallelic SCNM1 variants.
Human genomicsMissense Variants in the Second Transmembrane Domain of TMEM17 Disrupt Its Stability and Function and Lead to a Wide Phenotypic Spectrum of Ciliopathies.
Clinical genetics[Analysis of OFD1 gene variant in a child with Oral-facial-digital syndrome].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical geneticsExpansion of the Genotypic and Phenotypic Spectrum of TCTN3-Related Joubert Syndrome.
GenesExpanding the Genotypic and Phenotypic Spectrum of OFD1-Related Conditions: Three More Cases.
GenesUse of patient-derived cell models for characterization of compound heterozygous hypomorphic C2CD3 variants in a patient with isolated nephronophthisis.
Human molecular geneticsDYNC2H1 splicing variants causing severe prenatal short-rib polydactyly syndrome and postnatal orofaciodigital syndrome.
Annals of human geneticsExpanding the Phenotypic Spectrum of Pathogenic KIAA0586 Variants: From Joubert Syndrome to Hydrolethalus Syndrome.
International journal of molecular sciencesBiallelic loss of function variants in FUZ result in an orofaciodigital syndrome.
European journal of human genetics : EJHGBilateral lipomatous hamartoma of the tongue: A case report in a child with oral-facial-digital syndrome type VI.
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 DentistryThurston syndrome with thalassaemia: a rare case devising a novel molecular and phenotypic variation.
BMJ case reportsDifferential alternative splicing analysis links variation in ZRSR2 to a novel type of oral-facial-digital syndrome.
Genetics in medicine : official journal of the American College of Medical GeneticsReduced cone photoreceptor function and subtle systemic manifestations in two siblings with loss of SCLT1.
Ophthalmic geneticsAutistic Behavior as Novel Clinical Finding in OFD1 Syndrome.
GenesWhole-Exon Sequencing and Correlation Analysis of a 14-Month-Old Girl With Orofaciodigital Syndrome.
The Journal of craniofacial surgeryMutations in SCNM1 cause orofaciodigital syndrome due to minor intron splicing defects affecting primary cilia.
American journal of human geneticsA splice site variant in TCTN3 underlies an atypical form of orofaciodigital syndrome IV.
Annals of human geneticsPharmacological intervention of the FGF-PTH axis as a potential therapeutic for craniofacial ciliopathies.
Disease models & mechanismsWhole-exome sequencing identified novel variants in CPLANE1 that causes oral-facial-digital syndrome Ⅵ by inducing primary cilia abnormality.
Journal of cellular and molecular medicineExpanding the phenotype of males with OFD1 pathogenic variants-a case report and literature review.
European journal of medical geneticsAdditional findings of tibial dysplasia in a male with orofaciodigital syndrome type XVI.
Human genome variationPrenatally detected encephalocele associated with a novel pathogenic TCTN3 variant: A case report and literature review.
American journal of medical genetics. Part AExpanding the Phenotype of the FAM149B1-Related Ciliopathy and Identification of Three Neurogenetic Disorders in a Single Family.
GenesDeletion of RBMX RGG/RG motif in Shashi-XLID syndrome leads to aberrant p53 activation and neuronal differentiation defects.
Cell reportsOrofaciodigital syndrome type II (Mohr syndrome): a case report.
BMC musculoskeletal disordersIndian child with novel variant in OFD1 gene.
American journal of medical genetics. Part ACiliary Genes in Renal Cystic Diseases.
CellsMaheshvara, a Conserved RNA Helicase, Regulates Notch Signaling in Drosophila melanogaster.
Advances in experimental medicine and biologyA new case of KIAA0753-related variant of Jeune asphyxiating thoracic dystrophy.
European journal of medical geneticsTemporospatial sonic hedgehog signalling is essential for neural crest-dependent patterning of the intrinsic tongue musculature.
Development (Cambridge, England)A comprehensive evaluation of an OFDI syndrome from child to teenager.
Romanian journal of morphology and embryology = Revue roumaine de morphologie et embryologieMidline Cleft of Lip With Preaxial Polydactyly in One Hand: A Possible New Variation of Thurston Syndrome?
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationA systematic analysis of evidence for surgically accelerated orthodontics.
Journal of clinical and experimental dentistryAn Orofaciodigital Syndrome 1 Patient and Her Mother Carry the Same OFD1 Mutation but Have Different X Chromosome Inactivation Patterns.
Internal medicine (Tokyo, Japan)Prenatal findings in oral-facial-digital syndrome type VI: Report of three cases and literature review.
Prenatal diagnosisA novel pathogenic variant in OFD1 results in X-linked Joubert syndrome with orofaciodigital features and pituitary aplasia.
American journal of medical genetics. Part AFacial comedonal acne in orofaciodigital syndrome type 1 caused by a novel frameshift variant in OFD1.
Clinical and experimental dermatologyClinical spectrum of male patients with OFD1 mutations.
Journal of human geneticsBeyond the panel: preconception screening in consanguineous couples using the TruSight One "clinical exome".
Genetics in medicine : official journal of the American College of Medical GeneticsNovel mutations in the ciliopathy-associated gene CPLANE1 (C5orf42) cause OFD syndrome type VI rather than Joubert syndrome.
European journal of medical geneticsOral-facial-digital syndrome (OFD): 31-year follow-up management and monitoring.
Journal of biological regulators and homeostatic agentsINTU-related oral-facial-digital syndrome type VI: A confirmatory report.
Clinical geneticsHistory and highlights of the teratological collection in the Museum Anatomicum of Leiden University, The Netherlands.
American journal of medical genetics. Part ASuccessful treatment of facial milia in an infant with orofaciodigital syndrome type 1.
Pediatric dermatologyA loss-of-function homozygous mutation in DDX59 implicates a conserved DEAD-box RNA helicase in nervous system development and function.
Human mutationExpanding the allelic disorders linked to TCTN1 to include Varadi syndrome (Orofaciodigital syndrome type VI).
American journal of medical genetics. Part ARenal cystic disease and associated ciliopathies.
Current opinion in obstetrics & gynecologySurgically Induced Necrotizing Scleritis Following Strabismus Surgery Treated Successfully with Topical N-acetylcysteine in a Child with Congenital Fibrosis of Extraocular Muscles and Varadi Papp Syndrome.
StrabismusA Novel Mutation in the OFD1 Gene in a Family with Oral-Facial-Digital Syndrome Type 1: A Case Report.
Iranian journal of public healthMicrognathia in mouse models of ciliopathies.
Biochemical Society transactionsDoes Unc-GFP uncover ciliary structures in the rhabdomeric eye of Drosophila?
Journal of cell scienceMutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes.
Journal of medical geneticsDaughter and mother with orofaciodigital syndrome type 1 and glomerulocystic kidney disease.
Human pathologyExome sequencing identifies a mutation in OFD1 in a male with Joubert syndrome, orofaciodigital spectrum anomalies and complex polydactyly.
Human genome variationMKS5 and CEP290 Dependent Assembly Pathway of the Ciliary Transition Zone.
PLoS biologyFoetal and neonatal intracranial haemorrhage in term newborn infants: Hacettepe University experience.
Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosisTMEM107 Is a Critical Regulator of Ciliary Protein Composition and Is Mutated in Orofaciodigital Syndrome.
Human mutationExome sequencing for prenatal diagnosis of fetuses with sonographic abnormalities.
Prenatal diagnosisTMEM231, mutated in orofaciodigital and Meckel syndromes, organizes the ciliary transition zone.
The Journal of cell biologyExome sequencing identifies a homozygous C5orf42 variant in a Turkish kindred with oral-facial-digital syndrome type VI.
American journal of medical genetics. Part AAssociações
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Doença com base genética
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Doenças relacionadas
Doenças com sintomas parecidos — ajudam quem ainda está buscando diagnóstico
Perguntas frequentes
O que as famílias mais perguntam sobre esta doença — cada resposta com a fonte de onde saiu
É um grupo de condições raras caracterizado por malformações que afetam simultaneamente a boca, o rosto e os dedos das mãos e dos pés. Pode ser dividida em diferentes formas clínicas, como o tipo I (ligado ao X) e o tipo II (autossômico recessivo).
Referências
Fontes citadas no texto, publicações do grafo e bases de dados usadas neste verbete
6 publicações do grafo RarasNet (PubMed) · 6 bases de dados. Títulos, periódicos e PMIDs vêm direto da fonte, sem intermediação de IA.
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.
Citar este verbete
Raras. (s.d.). Síndrome orofaciodigital. Em Raras — Enciclopédia de Doenças Raras do Brasil. https://raras.org/doenca/sindrome-orofaciodigital
Formato APA. Conteúdo sob CC BY 4.0 — reuso livre com atribuição.
Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar
Síndrome orofaciodigital
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- Doença rara (ontologia)
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- fonte: MONDO
- CID-11 (futuro)
- fonte: WHO ICD-11
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- fonte: GARD (NIH)
- Indexação biomédica
- fonte: MeSH (NLM)
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- fonte: Wikidata
