Fenda palatina - fixação do estribo - oligodontia é caracterizada por fenda do palato mole, oligodontia grave dos dentes decíduos, ausência da dentição permanente, surdez condutiva bilateral devido à fixação da platina do estribo, háluxes curtos com amplo espaço entre o primeiro e o segundo dedos do pé e fusão dos ossos do carpo e do tarso. Foi descrito em duas irmãs de origem sueca. É provável um modo de herança autossômico recessivo. Não houve mais descrições na literatura desde 1971.
Introdução
O que você precisa saber de cara
Fenda palatina - fixação do estribo - oligodontia é caracterizada por fenda do palato mole, oligodontia grave dos dentes decíduos, ausência da dentição permanente, surdez condutiva bilateral devido à fixação da platina do estribo, háluxes curtos com amplo espaço entre o primeiro e o segundo dedos do pé e fusão dos ossos do carpo e do tarso. Foi descrito em duas irmãs de origem sueca. É provável um modo de herança autossômico recessivo. Não houve mais descrições na literatura desde 1971.
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
+ 7 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 14 características clínicas mais associadas, ordenadas por frequência.
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Nenhum gene associado encontrado
Os dados genéticos desta condição ainda estão sendo catalogados.
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 de fenda palatina-fixação do estribo-oligodontia
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Anaesthetic management of a paediatric patient with Goldenhar syndrome for oral rehabilitation and palatoplasty.
Goldenhar syndrome is a rare congenital condition characterised by craniofacial deformities and vertebral anomalies, which pose significant challenges for anaesthesiologists in airway management and ventilatory support. In this case report, we present a paediatric patient with Goldenhar syndrome for oral rehabilitation and palatoplasty, highlighting the importance of a thorough preoperative evaluation, airway planning and the application of lung protective ventilation strategies. The procedure was successfully done under general anaesthesia without intraoperative or postoperative complications. This case report emphasises the importance of individualised anaesthetic planning in patients with craniofacial and vertebral anomalies. The perioperative risks were significantly reduced by anticipating a potential difficult airway and tailoring ventilatory management.
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Cleft palate only (CPO) is a multifactorial craniofacial malformation with significant genetic and epigenetic contributions. Among these, microRNAs (miRNAs) have emerged as key regulators of palate development, although their alterations in CPO remain incompletely characterized. In this study, we performed a comprehensive miRNA expression analysis on palatal tissues from an Italian cohort of non-syndromic CPO patients, compared with a human embryonic palatal mesenchymal (HEPM) cell line. Using the NanoString® nCounter® platform for miRNA profiling, we identified significant deregulation of several miRNAs, notably the upregulation of miR-205-5p and miR-200c-3p and the downregulation of miR-125a-5p in CPO tissues. Based on these expression changes, a functional analysis was carried out to identify potential target genes. Validation in primary cell cultures derived from patient tissues confirmed these expression patterns. Functional analyses and target predictions implicated PAX9, a key transcription factor essential for palatogenesis, as a probable target of miR-205-5p, while miR-125a-5p was associated with the regulation of PRTG and PRSS35-genes involved in neural crest cell biology and extracellular matrix remodeling, respectively. Although modulation of certain predicted targets of miR-200c-3p was observed, in vitro inhibition experiments did not show significant changes in gene expression, highlighting the complexity of miRNA regulatory networks and the need for further studies to unravel these interactions. These findings identify miRNA alterations associated with CPO tissue and fibroblasts, highlighting novel candidate pathways for further mechanistic and therapeutic investigation.
Orofacial clefting in PHF6-related Börjeson-Forssman-Lehmann syndrome.
Börjeson-Forssman-Lehmann syndrome (BFLS) is a rare X-linked neurodevelopmental disorder caused by pathogenic variants in the plant homeodomain finger protein 6 (PHF6) gene. Core features include developmental delay, intellectual disability, dysmorphic craniofacial characteristics, obesity, hypogonadism and digital anomalies. Orofacial clefting has not been recognised as part of the canonical phenotype and is rarely reported in association with BFLS. One cohort study listed cleft lip and/or palate as an uncommon feature without individual case details, and a separate report described a female with a nonsense PHF6 variant and clefting of the hard and soft palate. Here, we describe a BFLS female with a de novo missense PHF6 variant who presented with cleft palate. This case adds to the emerging evidence that clefting, though uncommon, may be a recurrent manifestation. It supports the inclusion of PHF6 in the genetic testing of patients presenting with syndromic orofacial clefting when accompanied by neurodevelopmental delay or dysmorphism.
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DiGeorge syndrome (DGS; OMIM #188400), also known as 22q11.2 deletion syndrome, is characterized by cardiac defects, abnormal facial features, thymic hypoplasia, cleft palate, and hypocalcemia. The syndrome is ranked as the second most common chromosomal change after Down’s syndrome, accounting for 1 in 2000 newborns. DGS syndrome is typically diagnosed through CGH and/or FISH analysis in developed countries. However, in low-resource healthcare settings, diagnosis often relies primarily on clinical manifestations due to limited access to genetic testing. The present study, the first of its kind, seeks to deepen the understanding of both the clinical and genetic aspects of DGS among Sudanese patients by employing FISH analysis as a confirmatory test. Between 2020 and 2023, 19 patients with DGS as a provisional diagnosis were referred to the Elite Center for Genetic Services for genetic testing and counseling. Cytogenetics and chromosomal analysis were performed following standard protocols, complemented by chromosomal FISH analysis using locus-specific TUPLE1 and α-satellite DNA probes. Of the 19 patients, 9 (47.4%) were male, and 10 (52.6%) were female, with ages ranging from 2 months to 3 years, and a mean of 11 ± 8.6 months. The most common presentations were CHD in 13 (68.4%), dysmorphic features in 12 (63.2%), and recurrent respiratory tract infections in 9 (47.4%). The least common presenting complaint was intellectual disability in only 2 (10.5%) patients. The echocardiogram revealed isolated heart defects in 9 (47.4%) patients, and only 4 (21.1%) had combined cardiac anomalies. Laboratory tests showed hypocalcemia in all four neonatal patients (21.1%) with a previous history of neonatal convulsions. Conventional cytogenetic analyses were suggestive but non-conclusive {46,XY,?del(22) and 46,XX,?del(22)} for DGS. The complementary FISH analysis confirmed the diagnosis by detecting the microdeletion in the DGCR of chromosome 22. Our study highlights the late presentation of DGS for genetic diagnoses. This may be due to limited access to genetic testing, late referrals from treating physicians, or the high cost of the tests. A key area for future research is the environmental factors, such as skin bleaching, that may contribute to DGS in Sudan and other African populations.
Is 7p14.1 an orofacial cleft risk locus? Genome-wide study of copy number variation in multiple populations provides both a replication of previous studies and an alternative explanation.
Our understanding of the genetic causes of non-syndromic orofacial clefts (OFCs) is based largely upon genetic studies of common and rare nucleotide variants. Less is known about the role of copy number variations (CNVs) and the studies published to date have been limited to either small samples or targeted genomic regions. The objective of our study is to investigate the contribution of CNVs spread across the entire genome to OFC risk in a large multi-ancestry cohort. We utilized PennCNV on microarray genotyping data to detect CNVs in 10,240 participants (2,484 with clefts, 7,756 unaffected). 70,695 quality-filtered autosomal CNVs (49,660 deletions, 21,035 duplications) were used to assign normal/abnormal copy number statuses at 67,199 positions from the GRCh37 genome assembly. Genome-wide association was run between cleft status and copy number status. We observed a highly significant association between OFCs and deletions on chromosome 7p14.1 (p=1.32e-35) driven by Central and South American ancestry (p=1.04e-25) participants, with less significant contributions from European (p=3.37e-08) and Asian (p=0.01) ancestry participants. We also observed four other loci with p-values below 10e-04. The 7p14.1 association observed in our study is a replication of two prior studies in independent cohorts of European ancestry. However, this locus lies in a T-cell receptor region that is subject to somatic rearrangements that decrease in frequency with age and may affect genetic association results. Our data show age effects as well as differences between blood and saliva samples. Thus, our results can be interpreted either as supporting a previously established association with orofacial clefts, or as questioning those previous results in favor of a hypothesis about the behavior of somatic rearrangements in T-cell receptor regions.
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Clinical case reportsThe Structural Basis for Pacs1-Wdr37 Complex Assembly and Stability.
bioRxiv : the preprint server for biologyGenetic Diagnoses Among Congenital Anomaly Cases in Europe: Data From the EUROCAT Network.
Paediatric and perinatal epidemiologyCraniofacial surgery needs in the Moebius syndrome population.
Journal of plastic, reconstructive & aesthetic surgery : JPRASSjögren Syndrome Candidate Autoantigen AQP5 Triggers AQP4 CNS Autoimmunity Through Self-Antigen Mimicry.
Neurology(R) neuroimmunology & neuroinflammationBilateral Palatal Synechiae With Cleft Palate: A Rare Entity.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationEvaluation of clinical findings in predicting the development of serotonin syndrome: can the Hunter's criteria be used in children?
Postgraduate medicineAdvancements in Pathogenic Genes and Biomarkers for Non-syndromic Cleft Lip With or Without Cleft Palate Via Multiomics.
International dental journalDe Novo Missense Variant in TP63 Gene: Insights on Clinical and Molecular Investigations.
The journal of gene medicineCatch-Up Growth in Syndromic Robin Sequence: A Systematic Review.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationIntraoral Synechiae or Bands in Cleft Palate: Systematic Review With a Proposed Classification.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationDistinct IRF6 dysfunction mechanisms in syndromic orofacial clefts: Computational evidence for allosteric versus direct disruption.
Computational and structural biotechnology journalFAM20C and FAM20A in normal and ectopic mineralization: A focus on oro-renal syndromes.
Matrix biology : journal of the International Society for Matrix BiologyA rare variant of USP9X associated with female-restricted X-linked syndromic intellectual disability.
Molecular biology reportsOrthonasal and retronasal olfactory function in olfactory cleft obstructions.
RhinologyAesthetics Are in the Eye of the Beholder: Evaluation of the Nasolabial Appearance After Primary Cleft Lip Repair.
Journal of clinical medicineTwo Cases of Singular Sacral S1 Butterfly Vertebra.
Diagnostics (Basel, Switzerland)Caregiver-Reported Barriers and Predictors of Appointment Attendance in Pediatric Craniofacial Team Care.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationTwo Chinese patients with Basilicata-Akhtar syndrome caused by novel MSL3 variants: a case report and literature review.
Translational pediatricsLate-adolescent presentation of tethered cord syndrome secondary to filum terminale lipoma.
Surgical neurology internationalPrerepair Mortality in Cleft Lip and/or Palate: A Retrospective Analysis of Early Childhood Deaths.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationManagement of Obstructive Sleep Apnea in Children With Cleft Palate and/or Velopharyngeal Insufficiency: A Primer on Screening, Testing, and Treatment.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationMandibular Symphysis Bone for Alveolar Grafting: 3D Outcomes and Donor Site Regeneration in Patients With Unilateral Cleft Lip and Alveolus.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationSyndactylisation with internal bracing using a suture-button construct for severe cleft foot (Ectrodactyly): A 3-year follow-up case report.
Journal of clinical orthopaedics and traumaCleft@18-23 study research clinics: a protocol for a multicentre observational study across UK cleft centres to understand variation in outcomes at the end of routine cleft care.
BMJ openPharyngeal Airway Dilation After Trans-Sutural Distraction Osteogenesis (TSDO) in Adolescent Cleft Lip and Palate (CLP) Patients With Midfacial Hypoplasia.
The Journal of craniofacial surgeryPrevalence of Congenital Anomalies and Its Associated Factors Among Newborns in Central Ethiopia Region Public Hospitals, Ethiopia: A Retrospective Cross-Sectional Study, 2023.
Public health challengesMultidisciplinary management of nasal and lacrimal drainage disorders in ectrodactyly-ectodermal dysplasia-clefting syndrome.
Saudi journal of ophthalmology : official journal of the Saudi Ophthalmological SocietyAn Uncommon Case of Hypophosphataemia-Non-Lethal Raine Syndrome With Novel FAM20C Variant: Expanding the Phenotypic Spectrum.
American journal of medical genetics. Part APolymorphisms in congenital heart disease and extracardiac disorders.
Clinica chimica acta; international journal of clinical chemistryHaploinsufficiency of GRHL2 is associated with orofacial clefting in humans.
Human molecular geneticsBarriers to Surgical Care in Craniofacial Scleroderma (Parry-Romberg Syndrome).
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationStructural insight into RNA encapsidation by the severe fever with thrombocytopenia syndrome virus nucleocapsid protein.
mBioFaltering weight in infants with cleft lip and palate.
Journal of plastic, reconstructive & aesthetic surgery : JPRASAnkyloblepharon-ectodermal defects-cleft lip/palate syndrome in monozygotic twins with a novel tumor protein p63 gene pathogenic variant.
JAAD case reportsMild features of partial PAX3 deletion in patients with prenatal Waardenburg syndrome: a case report and literature review.
Frontiers in pediatricsEctrodactyly, Cleft Lip/Palate, and Urinary Anomalies With a Tumor Protein p63 (TP63) Mutation: A Case Report and Literature Review.
CureusA Unique Case of Pure Bilateral Lambdoid Craniosynostosis and Progression to Mercedes-Benz Syndrome Following Spring Cranioplasty.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationDual-Patch Technique with Ventricular Septal Defect Closure for Straddling Chordae.
Interdisciplinary cardiovascular and thoracic surgeryLateral mandibular ridge: A unique feature of the auriculocondylar syndrome.
European journal of radiologyPrevalence of Chronic Gastrointestinal Disorders in Patients With Cleft Lip and/or Palate.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationPrenatal diagnosis of 15q13.3 deletion and duplication syndrome: what do we tell the prospective parents?
Archives of gynecology and obstetricsThe Burden of Cleft Surgery a 36-Year Reflection of Surgical Management of Children With Orofacial Clefts in South Australia.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationOxidative stress-mediated apoptosis via the SLC23A2-ascorbic acid interaction contributes to cleft lip development.
Frontiers in pediatricsPsychological, Medical and Educational Experiences of Adolescents With Orofacial Clefts in South Australia.
International journal of paediatric dentistryA Rare Congenital Unilateral Solitary Lower Lip Pit without Cleft Lip and/or Palate: Case Report and Structured Review.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationIs a Vomer Flap at Primary Palatoplasty Associated With the Formation of a Bony Palatal Bridge?
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationSyndromes and Genetic Basis of Clefting.
Facial plastic surgery clinics of North AmericaEffects of Food Preferences and Supplement Intake During Pregnancy on the Cleft Lip and Palate Incidence: The Japan Environment and Children's Study.
NutrientsNatural conception complicated by spontaneous ovarian hyperstimulation syndrome in the setting of severe primary hypothyroidism: A case series.
MedicineQuality of life of children treated for cleft lip or palate in a selected South African population: a questionnaire-based survey of guardian/parent perspectives.
Oral and maxillofacial surgeryAuditory Outcomes in Patients Undergoing Orthognathic Surgery: An Analysis of Middle Ear Disease.
Otolaryngology--head and neck surgery : official journal of American Academy of Otolaryngology-Head and Neck SurgeryNasal Glioma in a Newborn With Suspected Pai Syndrome: Surgical and Diagnostic Insights.
The Journal of craniofacial surgeryGenetic Landscape of Robin Sequence: A Systematic Review.
Clinical geneticsGenetic heterogeneity and homogeneity among orofacial cleft subtypes: genome-wide association studies in the cleft collective.
Human molecular geneticsSpinal dysraphism in newborns: Screening factors for prioritizing rapid spinal ultrasonography from a retrospective cohort study.
Archives de pediatrie : organe officiel de la Societe francaise de pediatrieComparative Analysis of Maxillary Sinus Volume in Patients With Cleft Lip and Palate Versus Class III Malocclusion Patients Using CBCT.
Orthodontics & craniofacial researchCase report of a novel GREB1L gene mutation in a patient with branchio-oto-renal syndrome.
Journal of otologyDistinguishing syndromic and nonsyndromic cleft palate through analysis of protein-altering de novo variants in 818 trios.
American journal of human geneticsThree New Cases of Autosomal Recessive Stickler Syndrome due to Biallelic Variants in the LOXL3 Gene.
Clinical geneticsPresurgical Nasal Molding in a Bilateral Cleft Lip and Palate Patient with Patau Syndrome Using a Novel Bhatia's Hook: A Case Report.
International journal of clinical pediatric dentistryThe endocrine spectrum of Rathke cleft cysts.
Frontiers in endocrinologyVACTERL Association and Unilateral Lambdoid Craniosynostosis.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationMature Cleft Rhinoplasty: Morphologic Outcomes of Septal Cartilage Grafting.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationMastering the Art of Symmetry: Long-Term Outcomes and Management in Patients with Tessier No. 7 Cleft.
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.
- Anaesthetic management of a paediatric patient with Goldenhar syndrome for oral rehabilitation and palatoplasty.
- Toward Understanding the Role of miRNAs in Cleft Palate Only: Observations from Patient Tissues and In Vitro Assays.
- Orofacial clefting in PHF6-related Börjeson-Forssman-Lehmann syndrome.
- Clinical and genetic characterization of patients with Digeorge syndrome: a single-center, first report from Sudan.
- Is 7p14.1 an orofacial cleft risk locus? Genome-wide study of copy number variation in multiple populations provides both a replication of previous studies and an alternative explanation.
- Gorham-Stout disease with thoracic involvement: pathogenic mechanisms, respiratory complications, and multimodal therapies.
- Preferences, attitudes and views regarding genetic newborn screening (gNBS) for rare diseases: a systematic review of the literature and synthesis from 2009 to 2022.
- Unraveling the mystery of alien hand syndrome: when your hand has a mind of its own.
- Measurement of fatigue in sickle cell disease: a systematic review of fatigue measures.
- Assessing racial differences in North American hereditary hemorrhagic telangiectasia study recruitment and care.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:2010(Orphanet)
- OMIM OMIM:216300(OMIM)
- MONDO:0008993(MONDO)
- GARD:1393(GARD (NIH))
- Busca completa no PubMed(PubMed)
- Q55781757(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