A fissura labiopalatina é uma embriopatia do tipo fissura que se estende pelo lábio superior, base nasal, rebordo alveolar e palato duro e mole.
Introdução
O que você precisa saber de cara
A fissura labiopalatina é uma embriopatia do tipo fissura que se estende pelo lábio superior, base nasal, rebordo alveolar e palato duro e mole.
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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
+ 12 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 43 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
14 genes identificados com associação a esta condição. Padrão de herança: Multigenic/multifactorial.
May play a role in determining the production of hemoglobin S. May act as a repressor. During embryonic development, plays a role in palatogenesis
Nucleus
Non-syndromic orofacial cleft 15
A birth defect consisting of cleft lips with or without cleft palate. Cleft lips are associated with cleft palate in two-third of cases. A cleft lip can occur on one or both sides and range in severity from a simple notch in the upper lip to a complete opening in the lip extending into the floor of the nostril and involving the upper gum. OFC15 inheritance is autosomal dominant.
Ubiquitin-like protein that can be covalently attached to proteins as a monomer or a lysine-linked polymer. Covalent attachment via an isopeptide bond to its substrates requires prior activation by the E1 complex SAE1-SAE2 and linkage to the E2 enzyme UBE2I, and can be promoted by E3 ligases such as PIAS1-4, RANBP2 or CBX4. This post-translational modification on lysine residues of proteins plays a crucial role in a number of cellular processes such as nuclear transport, DNA replication and repa
Nucleus membraneNucleus speckleCytoplasmNucleus, PML bodyCell membraneNucleus
Non-syndromic orofacial cleft 10
A birth defect consisting of cleft lips with or without cleft palate. Cleft lips are associated with cleft palate in two-third of cases. A cleft lip can occur on one or both sides and range in severity from a simple notch in the upper lip to a complete opening in the lip extending into the floor of the nostril and involving the upper gum.
Tyrosine-protein kinase that acts as a cell-surface receptor for PDGFA, PDGFB and PDGFC and plays an essential role in the regulation of embryonic development, cell proliferation, survival and chemotaxis. Depending on the context, promotes or inhibits cell proliferation and cell migration. Plays an important role in the differentiation of bone marrow-derived mesenchymal stem cells. Required for normal skeleton development and cephalic closure during embryonic development. Required for normal dev
Cell membraneCell projection, ciliumGolgi apparatus
Essential multidomain scaffolding protein required for normal development (By similarity). Recruits channels, receptors and signaling molecules to discrete plasma membrane domains in polarized cells. Promotes epithelial cell layer barrier function via maintaining cell-cell adhesion (By similarity). May also play a role in adherens junction assembly, signal transduction, cell proliferation, synaptogenesis and lymphocyte activation. Regulates the excitability of cardiac myocytes by modulating the
Cell membraneBasolateral cell membraneEndoplasmic reticulum membranePostsynaptic densitySynapseCell membrane, sarcolemmaApical cell membraneCell junctionCytoplasm
GTPase activator for the Rho-type GTPases by converting them to an inactive GDP-bound state. Has strong activity toward RHOA, and weaker activity toward RAC1 and CDC42. May act as a specific effector of RAP2A to regulate Rho. In concert with RASIP1, suppresses RhoA signaling and dampens ROCK and MYH9 activities in endothelial cells and plays an essential role in blood vessel tubulogenesis
Acts as a transcriptional repressor (By similarity). Capable of transcription autoinactivation (By similarity). Binds to the consensus sequence 5'-C/GTAAT-3' in downstream activin regulatory elements (DARE) in the gene promoter, thereby repressing the transcription of CGA/alpha-GSU and GNRHR (By similarity). Represses transcription of myoblast differentiation factors (By similarity). Binds to core enhancer regions in target gene promoters of myoblast differentiation factors with binding specific
Nucleus
Tooth agenesis, selective, 1
A form of selective tooth agenesis, a common anomaly characterized by the congenital absence of one or more teeth. Selective tooth agenesis without associated systemic disorders has sometimes been divided into 2 types: oligodontia, defined as agenesis of 6 or more permanent teeth, and hypodontia, defined as agenesis of less than 6 teeth. The number in both cases does not include absence of third molars (wisdom teeth). STHAG1 can be associated with orofacial cleft in some patients.
The RIC1-RGP1 complex acts as a guanine nucleotide exchange factor (GEF), which activates RAB6A by exchanging bound GDP for free GTP, and may thereby be required for efficient fusion of endosome-derived vesicles with the Golgi compartment (PubMed:23091056). The RIC1-RGP1 complex participates in the recycling of mannose-6-phosphate receptors (PubMed:23091056). Required for phosphorylation and localization of GJA1 (PubMed:16112082). Is a regulator of procollagen transport and secretion, and is req
Cytoplasm, cytosolMembrane
CATIFA syndrome
An autosomal recessive disorder characterized by global developmental delay, intellectual disability, and behavioral abnormalities with mild to severe attention deficit-hyperactivity disorder. Motor, speech and cognitive deficits range from mild to severe. Patients show craniofacial dysmorphism including elongated face, short, broad upturned nose with anteverted nares and long philtrum. Additional clinical features are cleft lip/palate, tooth abnormalities, and visual impairment due to cataract, strabismus and poor visual tracking.
May act as a guanine-nucleotide releasing factor
Growth factor of the TGF-beta superfamily that plays essential roles in many developmental processes, including neurogenesis, vascular development, angiogenesis and osteogenesis (PubMed:31363885). Acts in concert with PTHLH/PTHRP to stimulate ductal outgrowth during embryonic mammary development and to inhibit hair follicle induction (By similarity). Initiates the canonical BMP signaling cascade by associating with type I receptor BMPR1A and type II receptor BMPR2 (PubMed:25868050, PubMed:800600
Secreted, extracellular space, extracellular matrix
Microphthalmia, syndromic, 6
A disease characterized by microphthalmia/anophthalmia associated with facial, genital, skeletal, neurologic and endocrine anomalies. Microphthalmia is a disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues (anophthalmia). In many cases, microphthalmia/anophthalmia occurs in association with syndromes that include non-ocular abnormalities.
Acts as a sequence specific DNA binding transcriptional activator or repressor. The isoforms contain a varying set of transactivation and auto-regulating transactivation inhibiting domains thus showing an isoform specific activity. Isoform 2 activates RIPK4 transcription. May be required in conjunction with TP73/p73 for initiation of p53/TP53 dependent apoptosis in response to genotoxic insults and the presence of activated oncogenes. Involved in Notch signaling by probably inducing JAG1 and JAG
Nucleus
Acro-dermato-ungual-lacrimal-tooth syndrome
A form of ectodermal dysplasia. Ectodermal dysplasia defines a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures. ADULT syndrome involves ectrodactyly, syndactyly, finger- and toenail dysplasia, hypoplastic breasts and nipples, intensive freckling, lacrimal duct atresia, frontal alopecia, primary hypodontia and loss of permanent teeth. ADULT syndrome differs significantly from EEC3 syndrome by the absence of facial clefting. Inheritance is autosomal dominant.
Cadherins are calcium-dependent cell adhesion proteins (PubMed:11976333). They preferentially interact with themselves in a homophilic manner in connecting cells; cadherins may thus contribute to the sorting of heterogeneous cell types. CDH1 is involved in mechanisms regulating cell-cell adhesions, mobility and proliferation of epithelial cells (PubMed:11976333). Promotes organization of radial actin fiber structure and cellular response to contractile forces, via its interaction with AMOTL2 whi
Cell junction, adherens junctionCell membraneEndosomeGolgi apparatus, trans-Golgi networkCytoplasmCell junction, desmosome
Diffuse gastric and lobular breast cancer syndrome
A cancer predisposition syndrome with increased susceptibility to diffuse gastric cancer. Diffuse gastric cancer is a malignant disease characterized by poorly differentiated infiltrating lesions resulting in thickening of the stomach. Malignant tumors start in the stomach, can spread to the esophagus or the small intestine, and can extend through the stomach wall to nearby lymph nodes and organs. It also can metastasize to other parts of the body. In addition to gastric cancer, most female mutation carriers develop lobular carcinoma of the breast.
Cell adhesion molecule that promotes cell-cell contacts and plays important roles in the development of the nervous system (PubMed:21325282). Acts by forming homophilic or heterophilic trans-dimers (PubMed:21325282). Heterophilic interactions have been detected between NECTIN1 and NECTIN3 and between NECTIN1 and NECTIN4 (By similarity). Involved in axon guidance by promoting contacts between the commissural axons and the floor plate cells (By similarity). Involved in synaptogegesis (By similarit
Cell membraneCell junction, adherens junctionPresynaptic cell membraneSecreted
Ectodermal dysplasia, Margarita Island type
An autosomal recessive form of ectodermal dysplasia, a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures. It is a syndrome characterized by the association of cleft lip/palate, ectodermal dysplasia (sparse short and dry scalp hair, sparse eyebrows and eyelashes), and partial syndactyly of the fingers and/or toes. Two thirds of the patients do not manifest oral cleft but present with abnormal teeth and nails.
Probable DNA-binding transcriptional activator. Key determinant of the keratinocyte proliferation-differentiation switch involved in appropriate epidermal development (By similarity). Plays a role in regulating mammary epithelial cell proliferation (By similarity). May regulate WDR65 transcription (By similarity)
NucleusCytoplasm
Van der Woude syndrome 1
An autosomal dominant developmental disorder characterized by lower lip pits, cleft lip and/or cleft palate.
Medicamentos e terapias
Mecanismo: Sodium channel protein type IV alpha subunit blocker
Mecanismo: Adrenergic receptor agonist
Variantes genéticas (ClinVar)
241 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 300 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
95 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 — Fenda labial/palatina
Selecione um estado ou use sua localização para ver resultados.
Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.
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Publicações mais relevantes
Mostrando amostra de 200 publicações de um total de 833
Single vs dual genetic disease in children with congenital anomalies and solid tumors.
Genome sequencing (GS) presents a powerful approach to uncover disease-causing genetic variants. We used GS to examine single vs dual molecular causes in some of the most complicated pediatric cases-those with both a neoplasm and a birth defect. From our pediatric biobank, we selected 1463 children with a major congenital malformation, such as cleft lip/palate or internal organ defect, including 827 cases with a pediatric-onset cancer. The cohort includes nearly 40% non-White and/or multiracial individuals. We implemented GS as a first-tier diagnostic method and hypothesized that in most cases, a single disease-causing variant would explain their complex disease pictures. We developed a novel variant annotation and prioritization algorithm to provide a molecular diagnosis. Our algorithm uncovered 361 disease-causing single-nucleotide variants/insertion/deletions in patients with compatible phenotypes (n = 324/1373; 23.6%), including 207 known and 120 novel variants in 167 genes. In addition, we identified aneuploidies (n = 41; 3%) and disease-causing copy-number variations, including haploinsufficient regions, de novo pathogenic variants and variable degrees of mosaicism (n = 65, 4.7%). Likely deleterious variants were identified in 2 candidate genes, GNG13 and RTKN2. Most cases had a single molecular cause for the cancer and the congenital anomaly, with notable exceptions of dual molecular causes. In children with severe and complex phenotypes, our findings demonstrate that GS revealed causative molecular underpinnings, including novel causes. A single genetic defect may underlie phenotypes of high complexity that appear unrelated, with double molecular findings identified in the same patient on rare occasions.
The pediatric oral mycobiome: a comprehensive review of its role in health and disease.
The oral microbiome functions as an intricate and coordinated microbial network, residing throughout the oral cavity in both health and disease. Although most oral microbiome research has focused on bacteria, there is a growing interest in oral fungal communities, known as the oral mycobiome. The oral cavity hosts a complex and diverse mycobiome comprising of an estimated 100 fungal species; however, the roles of these fungi have been largely overlooked and remain insufficiently characterized, particularly in children. This represents a critical gap, as early life is a key window for establishing oral microbial communities that shape lifelong oral and systemic health and offer opportunities for early intervention. Recent technological advances, especially next-generation sequencing, have enabled the identification of new fungal species and deepened our understanding of the diversity, structure, and interactions among fungal, bacterial, and other components within the oral cavity. Yet, research on the pediatric oral mycobiome remains fragmented and limited in scope. Addressing this gap is important since the early-life oral mycobiome may play an underappreciated role in shaping immune development, influencing susceptibility to oral diseases, and potentially contributing to systemic conditions during childhood and beyond. In this review, we examine the oral mycobiome in children, focusing on its formation and dynamics in health and in disease, including dental caries, periodontal disease, endodontic infection, and cleft lip/palate, and exploring its connections to several systemic consequences. By synthesizing current findings on fungal-related biological risk factors, we aim to inform the development of improved diagnostic tools and to guide the advancement of preventive and therapeutic strategies from fungal perspective.
Pleiotropic genes linking congenital hypogonadotropic hypogonadism and cleft lip/palate: evidence from a genomic CHH cohort study.
Congenital hypogonadotropic hypogonadism (CHH) is a rare and genetically heterogeneous disorder characterized by absent or incomplete puberty due to impaired gonadotropin-releasing hormone (GnRH) function. A subset of individuals with CHH also present with developmental anomalies, including midline defects such as cleft lip and/or palate (CLP). This study investigates the genetic overlap between CHH and CLP. A total of 336 individuals diagnosed with CHH were clinically assessed for associated phenotypes, including CLP. High-throughput sequencing was performed using a targeted gene panel encompassing known CHH- and CLP-related genes. Variants were analyzed and classified according to the American College of Medical Genetics and Genomics (ACMG) criteria for pathogenicity. CLP was present in 21 patients with CHH (6%). Pathogenic or likely pathogenic variants in genes associated with both CHH and CLP-such as FGFR1 and CHD7-were identified in eight individuals. Furthermore, 17% of the patients with CHH without CLP harbored deleterious variants in genes implicated in clefting, including DVL3, PLCB4, NIPBL, and EDNRA. Evidence of digenic inheritance involving both CHH- and CLP-related genes was observed in multiple cases. FGFR1 variants were the most frequently detected and were commonly associated with anosmia and additional developmental anomalies. These findings highlight a genetic and phenotypic continuum between CHH and CLP, underscoring the involvement of shared developmental pathways. The high prevalence of FGFR1 variants in patients with CHH and CLP supports its role as a pleiotropic gene. Understanding the overlapping genetic mechanisms may enhance diagnostic precision and inform personalized management strategies for affected individuals.
Clinical and genetic basis of congenital gonadotropin deficiency.
What is the clinical and genetic overlap across subtypes of congenital gonadotropin (Gn) deficiency? This study reveals substantial clinical and genetic overlap among Gn deficiency disorders, with shared genetic and developmental features across congenital hypogonadotropic hypogonadism (CHH), combined pituitary hormone deficiency (CPHD), and syndromic forms of Gn deficiency. Congenital Gn deficiency includes a subset of hypogonadotropic hypogonadism (HH) and can result from defects at the level of the hypothalamus or the pituitary. It includes (i) CHH, further classified into normosmic CHH (nCHH) and Kallmann syndrome (KS); (ii) CPHD; and (iii) syndromic forms such as CHARGE syndrome and septo-optic dysplasia (SOD). The study included all probands with Gn deficiency recruited at a tertiary care center between 2011 and 2024 (n = 568), including 276 KS, 247 nCHH, 29 CPHD, and 16 syndromic Gn deficiency cases. All individuals underwent detailed clinical phenotyping followed by DNA sequencing. Genetic analysis focused on pathogenic (P) and likely pathogenic (LP) variants and variants of uncertain significance (VUS) within established CHH and CPHD genes. Oligogenicity was assessed in the CHH/syndromic HH cohort (n = 523) compared with controls from 1000 Genomes (n = 601). Genetic overlap among CHH, CPHD, and syndromic Gn deficiency was systematically investigated. Cleft lip/palate, dental agenesis, and ear abnormalities were recurrent across all Gn-deficient groups. Notably, some CPHD and SOD patients exhibited anosmia and a preserved Gn response to LH-releasing hormone (LHRH) stimulation, indicating a hypothalamic component to their HH. Rare variants in CHH genes were identified in 53% of KS probands (40% P/LP, 13% VUS) and 33% of nCHH probands (23% P/LP, 10% VUS). FGFR1, ANOS1, and PROKR2 were most frequently mutated in KS, while GNRHR, FGFR1, and KISS1R predominated in nCHH. Oligogenic inheritance was detected in 15% of CHH cases, with variants in FGFR1 being most commonly involved. Importantly, a substantial proportion (14%) of CHH patients without a molecular diagnosis carried rare variants predicted to be P or LP in genes typically associated with CPHD (e.g. ROBO1, BRAF, FAT2, and DCHS2). Conversely, several CHH-associated genes such as FGFR1 and FGF8, already implicated in CPHD, were also identified in patients with CPHD and syndromic GN deficiency, further supporting a shared genetic architecture between CHH and CPHD. N/A. Non-coding and copy number variants were not studied. Functional studies of the new candidate genes for CHH were not undertaken. This study highlights the importance of comprehensive clinical evaluation and broadened genetic testing in patients with Gn deficiency. This work was supported by the Swiss National Foundation (NP) (Grant No. 310030B_201275 to N.P.) and the Natural Science Foundation of Beijing (Grant No. 7244338 to Y.W.). The authors declare no competing interests.
A Novel Model System to Identify Cellular and Molecular Defects Underlying Rare Genetic Disorders.
Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) is a disorder caused by autosomal-dominant mutations in the TP63 gene. AEC is characterised by the presence of severe and painful skin erosions that can take years to heal. Current treatment options for these devastating lesions are limited, highlighting the need for new therapeutic strategies. We previously generated keratinocytes from patient-derived induced pluripotent stem cells (iPSC-K) and identified defects in several cell adhesion complexes, including desmosomes, hemidesmosomes and focal adhesions. In the present study, we developed a complementary in vitro model using NTERT keratinocytes transduced with lentiviral constructs expressing AEC-related TP63 mutations (N-AEC). This model allows for the large-scale production of disease-relevant material, overcoming the limitations of iPSC-derived keratinocytes, which have the characteristics of primary keratinocytes, including limited cell doublings and lifespan. We demonstrate that N-AEC keratinocytes exhibit key defects observed in AEC iPSC-K and AEC patient skin, including downregulation of cell adhesion proteins. In addition, 3D epidermal equivalents generated from these cells replicate pathological features seen in AEC patient skin, such as intra-epidermal cysts, reduced desmosomal protein expression and altered expression of differentiation markers. Our N-AEC model provides a valuable tool for investigating the mechanisms underlying skin fragility in AEC and other genetic skin disorders and advances the potential for novel therapeutic development.
Publicações recentes
Associations Between Alcohol Dehydrogenase Mutations and Cleft Lip/Palate: A Scoping Review.
Comparisons of longitudinal speech outcomes in children born with cleft palate ± cleft lip with and without additional conditions at 5 and 10 years -a registry study.
Heterozygous CECR2 Variants Support a Distinct Neurodevelopmental Syndrome with Features Overlapping Cat Eye Syndrome.
Use of Mesenchymal Stem Cells in Facial Bone Tissue Regeneration: An Overview of the Present.
Septorhinoplasty in Congenital Craniofacial Anomalies: A Narrative Review of Contemporary Surgical Approaches.
📚 EuropePMC565 artigos no totalmostrando 199
Clinical and genetic basis of congenital gonadotropin deficiency.
Human reproduction openA Novel Model System to Identify Cellular and Molecular Defects Underlying Rare Genetic Disorders.
Experimental dermatologySingle vs dual genetic disease in children with congenital anomalies and solid tumors.
Genetics in medicine openA Population-Based Study of U.S. Trends in Selected Congenital Anomalies (2016-2023) and Socio-Demographic Disparities: A CDC WONDER Analysis.
Children (Basel, Switzerland)Disparities in Cleft Care for Hispanic/Latino Patients in the United States: A Systematic Review and Meta-Analysis.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationOrofacial Cleft Disparities in American Indian and Alaska Native Populations: A Systematic Review and Meta-Analysis.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationIs Osteotome Type Associated With Lateral Nasal Wall Separation and Nasal Mucosal Integrity in Le Fort I Osteotomy?
Journal of oral and maxillofacial surgery : official journal of the American Association of Oral and Maxillofacial SurgeonsConstruct Validity of Japanese Version of CLEFT-Q: Cleft-Specific Patient-Reported Outcomes Questionnaire.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationThe pediatric oral mycobiome: a comprehensive review of its role in health and disease.
Frontiers in cellular and infection microbiologyMultidisciplinary Care Considerations for Children with Facial Clefts.
Oral and maxillofacial surgery clinics of North AmericaMapping a Decade of Research Trends in Plastic Surgery: A Topic Modeling Analysis of PSTM Abstracts.
Plastic and reconstructive surgeryTemporomandibular joint ankylosis associated with psoriasis and familial Mediterranean fever: a rare case report.
Journal of stomatology, oral and maxillofacial surgeryBehind the Screens-Social Media and Psychosocial Outcomes in Adolescents With Cleft Lip/Palate.
Annals of plastic surgeryLoss of SPECC1L in cranial neural crest cells results in increased hedgehog signaling and frontonasal dysplasia.
Frontiers in physiology[Genetic analysis of a fetus with 12q14 microdeletion syndrome].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical geneticsUnderstanding Appearance Concerns in Young People With Cleft Lip ± Palate: A Photo Elicitation Study.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationLife Beyond Surgery: Postoperative Quality of Life in Patients With Cleft Lip/Palate.
Journal of oral and maxillofacial surgery : official journal of the American Association of Oral and Maxillofacial SurgeonsTiming Matters? Investigating the Impact of Age at Palatal Closure on Hearing in Filipino Individuals with Cleft Palate.
Folia phoniatrica et logopaedica : official organ of the International Association of Logopedics and Phoniatrics (IALP)Hemiuvulectomy: is it a suitable alternative?
World journal of pediatric surgeryUndernutrition and Feeding Difficulties Among Children with Disabilities in Uganda: A Cross-Sectional Study.
NutrientsGenetic Associations with Non-Syndromic Cleft Lip/Palate and Dental Caries in Kuwaiti Patients: A Case-Control Study.
Dentistry journalMalformation Pattern and Molecular Findings in the FGFR1-Related Hartsfield Syndrome Phenotype.
Medical sciences (Basel, Switzerland)Evolution of Simulation-Based Training: The Comprehensive Cleft Care Workshop as a Model for Sustainable Cleft Education.
Annals of plastic surgeryVisualizing the Timeline of Care: Development of a Graphical Approach to Better Understanding Complex, Longitudinal Surgical Care of Cleft Lip/Palate.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationPleiotropic genes linking congenital hypogonadotropic hypogonadism and cleft lip/palate: evidence from a genomic CHH cohort study.
European journal of human genetics : EJHGrs2033806 at PAX3 Gene Associated with Non-syndromic Oral Cleft among the Chinese Population.
The Chinese journal of dental researchRisk factors associated with hearing loss in neonates: A retrospective cross-sectional study from Qatar.
Qatar medical journalTherapeutic p63 isoform switching rescues epidermal defects in AEC syndrome.
Molecular therapy : the journal of the American Society of Gene TherapyIs bone quality decreased in cleft patients? A comparison of cleft and non-cleft orthognathic surgery patients using radiological measurements.
Journal of cranio-maxillo-facial surgery : official publication of the European Association for Cranio-Maxillo-Facial SurgeryCleft lip/palate multidisciplinary team effectiveness on appropriate surgery timing and improving disparities.
International journal of pediatric otorhinolaryngologyA Candidate Gene for Cerebro-Oculo-Nasal Syndrome: A Zinc-Finger Gene ZNF185 Located at Xq28.
Molecular syndromologyAssessment of the skull base, pterygomaxillary junction, and its association with the orbit in skeletal malocclusion and cleft lip/palate implications for Le fort I osteotomy.
BMC oral healthThe hidden brain in cleft: Clinical presentation in patients with median cerebrofacial dysgenesis.
Journal of plastic, reconstructive & aesthetic surgery : JPRASSkeletal and Dental-Alveolar Changes With Invisalign First Expansion System in the Mixed Dentition: A Retrospective Study.
Orthodontics & craniofacial researchSkeletal deformities and surgical procedures in orthognathic surgery patients: a 10-Year retrospective analysis of 1095 cases.
BMC oral healthRisk factors associated with the failure of secondary alveolar bone grafting with autologous iliac crest bone in patients with alveolar cleft defects: a systematic review.
Frontiers in oral healthAssociations Between Dermatoglyphic Patterns and Oral Diseases in Children: A Systematic Review and Meta-Analysis.
CureusDe Novo Missense Variant in TP63 Gene: Insights on Clinical and Molecular Investigations.
The journal of gene medicineBuccal Flap during Primary Furlow Palatoplasty Decreases Likelihood of Velopharyngeal Insufficiency in Patients with Cleft Palate.
Plastic and reconstructive surgeryHealth System Factors Influencing Availability and Access to Comprehensive Care for Cleft Lip, Palate, and Craniofacial Anomalies in Dar es Salaam, Tanzania.
Plastic and reconstructive surgery. Global openIs Patient-Specific Hardware for Orthognathic Surgery More Frequently Removed Than Stock Plates?
Journal of oral and maxillofacial surgery : official journal of the American Association of Oral and Maxillofacial SurgeonsSafety of Valproic Acid Use in Pregnant Women: A Systematic Review and Meta-Analysis.
The journal of obstetrics and gynaecology researchAnkyloblepharon-ectodermal defects-cleft lip/palate syndrome in monozygotic twins with a novel tumor protein p63 gene pathogenic variant.
JAAD case reportsEctrodactyly, Cleft Lip/Palate, and Urinary Anomalies With a Tumor Protein p63 (TP63) Mutation: A Case Report and Literature Review.
CureusEpidemiological insights into neural tube and orofacial malformations in Chile using data from the National Registry of Congenital Anomalies (RENACH).
BMC pediatricsA 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 AssociationAlveolar Cleft Reconstruction and Orthodontic Management of Patients with Cleft Lip-Palate.
Facial plastic surgery clinics of North AmericaDiscordant phenotypic outcomes in monozygotic twins conceived via IVF: A case report involving Hirschsprung's disease, tricuspid and pulmonary atresia, and orofacial clefts without detectable genetic mutation.
Case reports in women's healthAchieving and Sustaining Standardized Measurement of Treatment Outcomes in Children With Cleft Lip/Palate: Pilot Study of a Multifaced Implementation Strategy.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationIdentification of Novel and Rare Gene Variants in Cleft Lip/Palate Patients From Kuwaiti Consanguineous Families by Exome Sequencing.
American journal of medical genetics. Part AManagement of Severe Maxillary Atrophy in a Patient With Hay-Wells Syndrome.
The Journal of craniofacial surgeryComparative Evaluation of Z-Plasty and Linear Closure in Ankyloglossia Patients: A Randomized Study of Effects on Speech Articulation and Airway Volume.
Journal of oral and maxillofacial surgery : official journal of the American Association of Oral and Maxillofacial SurgeonsVisualization Analysis of Trends and Hotspots in Lip Scar Research Based on Bibliometrics.
The Journal of craniofacial surgeryPatterns of Oropharyngeal Dysphagia Associated With Craniofacial Microsomia.
The Journal of craniofacial surgerySafety and Efficacy of Liposomal Bupivacaine (ExparelⓇ) in Pediatric Patients Undergoing Cleft Lip and Palate Repair: A Retrospective Review.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationA Novel TP63 Missense Mutation in the Sumoylation Motif Causes Isolated Split-Hand/Foot Malformation 4: A Pedigree Report and Literature Review.
Molecular genetics & genomic medicineTwo Presentations of Neuroglial Heterotopias With Cleft Palate.
CureusPatient Reported Outcomes Pre- and Post-Surgery in Patients With Cleft Lip/Palate: An Assessment of Post-Operative Change Utilizing CLEFT-Q.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationReduction of hypernasal speakers' nasalance scores with voice focus adjustments: Replication and expansion of findings.
Clinical linguistics & phoneticsPeriodontal and microbiological evaluation in cleft lip/palate patients undergoing orthodontic treatment: An in vitro study.
BioinformationPrenatal Diagnosis of Hartsfield Syndrome in the Fetus With Isolated Ectrodactyly Caused by a Novel Variant in FGFR1.
American journal of medical genetics. Part ASystematic Review of Growth in Young Children With Cleft Lip and/or Cleft Palate From 0 to 24 Months of Age.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationQuantitative and Qualitative Segmental Surface Growth in Infants with Unilateral Cleft Lip and Palate: A Prospective In Vivo Study.
Medicina (Kaunas, Lithuania)Association between CpG-SNPs and nonsyndromic cleft lip palate in a Chilean population.
Archives of oral biologyAssessment of the Frequency of Molar Incisor Hypomineralization in a Small Group of Cleft Lip and Palate Patients: Pilot Study.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationOptimizing adjuvant strategies for sevoflurane-related emergence delirium: a Bayesian network meta-analysis in pediatric surgery.
Frontiers in pharmacologyLong-Term Midfacial Growth and Speech Outcomes Following Modified Furlow Double-Opposing Z-Palatoplasty.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationGalectin-10 Characterization in Cleft Lip Palate - Affected Palatal Tissue.
Acta medica LituanicaMorphometric Comparison of Alveolar Antral Artery in Patients With Cleft Palate/Lip and Control Group Using CBCT Images.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationSecondary Bilateral Cleft Lip Deformity Correction With Modified Double Z-Plasty to Reconstruct Cupid's Bow.
CureusExome Sequencing Studies in Syndromic Patients With Cleft Lip and/or Palate: Systematic Review.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationBreathable soft bioelectronics for enhanced automatic detection of obstructive sleep apnea.
Biosensors & bioelectronicsA bibliometric analysis of orthodontic publications related to care of patients with cleft lip/palate from 2000 to 2024.
Journal of stomatology, oral and maxillofacial surgeryTrends in the Prevalence of Orofacial Clefts Among Hispanic Infants in the Rio Grande Valley of Texas (1997-2018).
CureusThe Impact of the COVID-19 Pandemic on Cleft and Craniofacial-Related Surgeries at the Hospital for Sick Children.
The Journal of craniofacial surgeryThe State of Otolaryngology-Head and Neck Surgery Efforts in Global Surgery Outreach: Initiatives to Address Cleft Lip-Palate and Craniofacial Care.
Facial plastic surgery & aesthetic medicineAnkyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome-Linked p63 Mutations Disrupt Keratinocyte Proliferation and Survival Through Oxidative Stress and Impaired Slc7a11 Expression.
International journal of molecular sciencesNasal Symmetry Outcomes After Nasoalveolar Molding (NAM) Plus Cheiloplasty Treatment in Babies With Cleft Lip/Palate: Systematic Review and Meta-Analysis.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationSecondary rhinoplasty outcomes in unilateral cleft lip patients: A photogrammetric analysis.
Journal of cranio-maxillo-facial surgery : official publication of the European Association for Cranio-Maxillo-Facial SurgeryAssociation of obstructive sleep apnea in children with and without cleft lip palate.
BMC oral healthEffectiveness and Outcomes of Primary Rhinoplasty in Cleft Lip Surgery: A Systematic Review and Meta-Analysis.
The Journal of craniofacial surgeryThe Effect of Le Fort I Osteotomy on Nasal Tip Rotation in Dynamic Smile.
Journal of oral and maxillofacial surgery : official journal of the American Association of Oral and Maxillofacial Surgeons[Short and long-term results of bone grafting of the maxillary alveolar process in patients with alveolar ridge cleft].
StomatologiiaIntrafamilial Phenotypic Variability of the FGFR1 p.Cys277Tyr Variant: A Case Report and Review of the Literature.
GenesCraniofacial Manifestation and Oral Health Care Needs in Pediatric Population With Fetal Alcohol Syndrome: A Systematic Review.
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 Novel p63 Sterile Alpha Motif Domain Variation Identified in a Boy With Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome.
The Journal of dermatologyGrowth pattern prediction of maxillary segments in infants with unilateral cleft lip and palate: a prospective in vivo study.
Clinical oral investigationsMidline defect with corpus callosum agenesis, vermian hypoplasia and median cleft lip palate.
Case reports in perinatal medicineLetter comments on: "A nationwide analysis of the association between parental age and incidence of cleft lip/palate".
Journal of plastic, reconstructive & aesthetic surgery : JPRASA systematic review of congenital external ear anomalies and their associated factors.
Frontiers in pediatricsSatisfaction of Caregivers of Patients With Cleft Lip-Palate at the Khoula Hospital Cleft Center.
The Journal of craniofacial surgeryTranslation, Linguistic Validation, and Reliability of the CLEFT-Q in a German Context.
The Journal of craniofacial surgeryImaging Prior to Velopharyngeal Dysfunction Surgery in Patients With 22qDS?
The LaryngoscopeMitochondrial proteins and congenital birth defect risk: a mendelian randomization study.
BMC pregnancy and childbirthReversible abducens nerve palsy following cranial vault expansion in the setting of multisutural craniosynostosis: illustrative case.
Journal of neurosurgery. Case lessonsLearnability of the LAHSHAL Classification for Oral Clefts: Results of an International Webinar.
The Journal of craniofacial surgeryRevolutionizing cleft lip and palate management through artificial intelligence: a scoping review.
Oral and maxillofacial surgeryEffects of Rapid Palate Expander on Facial Soft Tissues and Dental Arch: Study Conducted With Stereophotogrammetry and Intraoral Scans in Cleft Patients.
The Journal of craniofacial surgeryA nationwide analysis of the association between parental age and incidence of cleft lip/palate.
Journal of plastic, reconstructive & aesthetic surgery : JPRASAssociation Between Psychiatric Diagnoses and Revision Cosmetic Rhinoplasty.
Facial plastic surgery & aesthetic medicineThe Skin-to-Mucosa Ratio Defines the Osteogenic Potential of Lip Fibroblasts.
Journal of dental researchVan der Woude syndrome and amniotic band sequence: A clue to a common genetic etiology? A case report.
Genetics and molecular biologyEvaluation of Nasolabial Aesthetics and Self-Image Satisfaction among 16- to 20-Year-Old Patients with Cleft Lip and Palate in Northeast Thailand.
Archives of plastic surgeryCleft Palate-Lateral Synechiae Syndrome: A Case Report.
Indian journal of plastic surgery : official publication of the Association of Plastic Surgeons of IndiaSkeletal, dentoalveolar and soft tissue effects of different maxillary expansion appliances in cleft lip/palate patients: A systematic review and frequentist network meta-analysis.
Journal of stomatology, oral and maxillofacial surgeryNew Genitourinary Findings in CTNND1 Blepharocheilodontic Syndrome.
American journal of medical genetics. Part AEfficacy of Recombinant Human Bone Morphogenetic Protein-2 in Alveolar Cleft Treatment for Children: Systematic Review and Meta-Analysis.
Life (Basel, Switzerland)A General Paediatric Approach to Ankyloblepharon-Ectodermal Dysplasia-Cleft Lip/Palate Syndrome in Infancy: A Case Report.
Journal of paediatrics and child healthAddressing Cleft Care in Low- and Middle-Income Countries Beyond Cleft Lip and Palate with Improvement of Otolaryngology, Audiology, and Speech Services.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationA Novel NUP85 Variant Expanding the Phenotypic Spectrum of NUP85-Associated Steroid-Resistant Nephrotic Syndrome.
Clinical geneticsTen-year occlusion comparison of patients with cleft palate who received treatment with active or passive pre-surgical orthopedic devices.
Journal of plastic, reconstructive & aesthetic surgery : JPRASA Novel Approach to Intermediate Cleft Rhinoplasty Utilizing a Pedicled Fibrofatty Flap.
Plastic and reconstructive surgery. Global openEpidemiological Patterns and Geospatial Mapping of Cleft Lip/Palate in a Comprehensive Cleft Center in Northwestern Nigeria: Estimating Distribution Using Geographical Information Systems.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationAnthracyclines disaggregate and restore mutant p63 function: a potential therapeutic approach for AEC syndrome.
Cell death discoveryCranial Base Changes After Trans-sutural Distraction Osteogenesis in Growing Patients With Cleft Lip/Palate and Midface Hypoplasia.
The Journal of craniofacial surgeryOral and Maxillofacial Manifestations of Kallmann Syndrome: A Systematic Analysis of the Literature.
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 DentistryParents' views and experiences of raising babies born with cleft lip and palate: a qualitative study.
BMC pediatricsImplementation of a program to strengthen oral hygiene in patient with cleft deformities: a prospective randomized controlled clinical trial.
TrialsNormative Palatal Measurements in Infants: Implications for Nasoalveolar Molding in Cleft Lip and Palate Patients.
The Journal of craniofacial surgerySpeech Outcomes After Primary Palatoplasty and Presurgical Cleft Characteristics: Is There a Predictive Association?
The Journal of craniofacial surgeryMorphometric Evaluation of the Greater Palatine Foramen in Patients With Cleft lip and Palate (CLP) and Controls: A CBCT Study.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationEpithelial-mesenchymal crosstalk: the scriptwriter of craniofacial morphogenesis.
Frontiers in cell and developmental biologyGenetic Variability of IRF6 Polymorphisms in Non-Syndromic Cleft Lip/Palate: A Meta-Analysis Across Diverse Populations.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationImpact of WHO's Surgical Safety Checklist-Based Program on Cleft-lip and Palate Repair Outcomes in LMICs-The CLEAN CLEFT Program.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationInvestigating the dynamic relationship of sleep-disordered breathing, orthodontic treatment needs, and dental esthetics in the general population.
Annals of thoracic medicineIn the eye and mind of the beholder: The effects of familiarisation on the perception of atypical infant facial configurations.
PloS oneThe Burden of Plastic Surgery in Rural Kenya: The Kapsowar Hospital Experience.
Plastic and reconstructive surgery. Global openThe mediating role of life satisfaction in the effect of caregiving burden on mental well-being in parents of children diagnosed with cleft lip/palate.
Journal of pediatric nursingPeriocular manifestations of blepharocheilodontic syndrome and their management: case series and literature review.
Orbit (Amsterdam, Netherlands)Relationship Between Oral Hypofunction and Nutritional Status in Patients Treated With Maxillofacial Prostheses.
CureusSurgical Correction of Secondary Bilateral Cleft lip and Nasal Deformities Using the Delaire-Precious Technique.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationNasoalveolar Molding Therapy in a Newborn With Cleft Lip and Palate: A Case Report.
CureusA Syndrome Affecting All Five Sense Organs: A Rare Congenital Disorder of Kabuki Makeup Syndrome With Multiple Pre-auricular Skin Tags.
CureusA Rare Case of TP63-Associated Lymphopenia Revealed by Newborn Screening Using TREC.
International journal of molecular sciencesCase report: Artificial thymic organoids facilitate clinical decisions for a patient with a TP63 variant and severe persistent T cell lymphopenia.
Frontiers in immunologyCharacterization of Tissue Immunity Defense Factors of the Lip in Primary Dentition Children with Bilateral Cleft Lip Palate.
Journal of personalized medicineClinical use of cone-beam computed tomography in Western Norway: a referral-based retrospective study.
Acta odontologica ScandinavicaComparison of total prevalence, perinatal prevalence, and livebirth prevalence of birth defects in Hunan Province, China, 2016-2020.
Frontiers in public healthFactors related to the occurrence of fetal birth defects and the construction of a Nomogram model.
Pediatric health, medicine and therapeuticsPostoperative Feeding in Cleft Surgery: A Systematic Review.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationRhinoplasty for Patients with Cleft Lip-Palate: Functional and Aesthetic Concerns.
Otolaryngologic clinics of North AmericaEffects of bone anchored maxillary protraction on patients with unilateral cleft lip/palate or isolated cleft palate and hypoplastic maxilla: a 6-year follow-up case control study.
The Angle orthodontistQuality of Life of the Primary Caregivers of Children with Cleft Lip and Palate in Guanajuato, Mexico: A Cross-Sectional Study.
Healthcare (Basel, Switzerland)A de novo case of ankyloblepharon, ectodermal defects, cleft lip/palate syndrome with TP63 mutation diagnosed prenatally.
Indian journal of dermatology, venereology and leprologyProfiling the Roles and Responsibilities of Professionals and Non-Professionals Providing Speech Language Services for Individuals with CLP in Resource-Limited Regions.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationPeripheral giant cell granuloma in a child with ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome: a case report.
BMC oral healthPrevalence rates for ectodermal dysplasia syndromes.
American journal of medical genetics. Part AModified indigenous nasal elevator for cleft lip and palate patient: A novel clinical innovation.
Medical journal, Armed Forces IndiaImproving Craniofacial Team Collaboration: A Multicenter Interview Study of Effective Team Meetings.
Journal of multidisciplinary healthcareinvdup(8)(8q24.13q24.3)-A Complex Alteration and Its Clinical Consequences.
GenesEffect of facial and nasolabial asymmetry on perceived facial esthetics in children with non-syndromic cleft lip and palate.
Clinical oral investigationsModerate altitude as a risk factor for isolated congenital malformations. Results from a case-control multicenter-multiregional study.
Birth defects researchPreemptive airway management planning: A retrospective evaluation of the pediatric difficult airway consultation service.
Acta anaesthesiologica ScandinavicaImpact of COVID-19 Pandemic on Cleft Lip/Palate Surgery in Brazil: Assessing the Current Landscape.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationMaternal micronutrient biomarkers and risk of non-syndromic cleft lip/palate: A case-control study.
Oral diseasesOral Health Assessment in Cleft Lip & Palate Patients During Orthodontic Treatment for Maxillary Protraction: A Periodontal & Microbiological Study.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationEctodermal dysplasia and cholesteatoma: A cross-sectional analysis of otologic issues.
International journal of pediatric otorhinolaryngologyMidface asymmetry in non-syndromic unilateral cleft lip-palate: a retrospective cbct analysis.
European oral researchManagement of a bulbous blunderbuss maxillary central incisor with one root and three canals in a patient with cleft lip and palate.
Journal of conservative dentistry and endodonticsPeriodontal and microbiological evaluation in cleft lip/palate patients undergoing orthodontic treatment: A cross-sectional study.
Journal of periodontologyDecision Considerations and Strategies for Lip Surgery in Patients with Cleft lip/Palate: A Qualitative Study.
Journal of dermatology and dermatitisA systematic review of barriers to accessing cleft care worldwide.
Birth defects researchEffect of selective trimming of nasoavleolar molding on maxillary arch growth in patients with unilateral cleft lip and palate.
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 Longitudinal Investigation of Nasolabial Changes With and Without Revision Surgery in Patients with Non-Syndromic Unilateral Cleft Lip and Palate.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationAnalgesic Potential Comparison Between Piperine-Combined Curcumin Patch and Non-Piperine Curcumin Patch: A Pragmatic Trial on Post-Cleft Lip/Palate Surgery Pediatric Patients.
Journal of pain researchDetermination of safety margin of nasal septum osteotomy for sphenoid sinus in cleft lip and palate patients.
BMC oral healthOrthodontic Status and Association with Oral-Health-Related Quality of Life-A Study of 16-Year-Old Norwegians with a Cleft Lip and Palate.
International journal of environmental research and public healthLacrimal Drainage Anomalies in Goldenhar, Rubinstein-Taybi, and Ectodermal-Ectrodactyly-Clefting Syndromes.
Seminars in ophthalmologyVery young and advanced maternal age strongly elevates the occurrence of nonchromosomal congenital anomalies: a systematic review and meta-analysis of population-based studies.
American journal of obstetrics and gynecologyLifestyle of Cleft Lip/Palate Patients in Korea Before the Introduction of the Millard Technique.
The Journal of craniofacial surgerySpecific Birth Defects Following Antiseizure Medications Used By Pregnant Women With Epilepsy.
Neurology. Clinical practiceRegulatory role of primary cilia in oral and maxillofacial development and disease.
Tissue & cellIncomes to Outcomes: A Global Assessment of Disparities in Cleft and Craniofacial Treatment.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationPerspectives on the state of cleft lip and cleft palate patient care in Africa.
Current opinion in otolaryngology & head and neck surgeryCharacteristics of Factors Influencing the Occurrence of Cleft Lip and/or Palate: A Case Analysis and Literature Review.
Children (Basel, Switzerland)Is the collateral circulation pattern in the hard palate affected by cleft deformity?
Clinical oral investigationsPDGFRα signaling regulates Srsf3 transcript binding to affect PI3K signaling and endosomal trafficking.
bioRxiv : the preprint server for biologyNeed for orthognathic surgery in cleft patients from Northern Finland.
Acta odontologica ScandinavicaEvaluation of a 3D-Printed Cleft Palate Obturator Using a Low-Dose Cone Beam Computed Tomography Acquisition Protocol: A Proof-of-Concept Study.
Cureus3D evaluation of the maxillary sinus volumes in patients with bilateral cleft lip and palate.
The Journal of clinical pediatric dentistryEffects of cleft lip on visual scanning and neural processing of infant faces.
PloS oneEarly embryogenesis in CHDFIDD mouse model reveals facial clefts and altered cranial neurogenesis.
Disease models & mechanismsCongenital midline upper lip sinus in an infant.
BMJ case reportsHuman split hand/foot variants are not as functional as wildtype human PRDM1 in the rescue of craniofacial defects.
Birth defects research"It's On Your Shoulders Now" Transitioning from Child-to-Adult UK Cleft Lip/Palate Services: An Exploration of Young Adults' Narratives.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationA comprehensive consolidation of data on the relationship between IRF6 polymorphisms and non-syndromic cleft lip/palate susceptibility: From 79 case-control studies.
Journal of stomatology, oral and maxillofacial surgerySoft-Tissue Changes in Unilateral Cleft Lip and Palate Patients after Non-surgical Maxillary Advancement with Face Mask Therapy - A Prospective Cohort Study.
Annals of maxillofacial surgeryGenetic variant classification by predicted protein structure: A case study on IRF6.
Computational and structural biotechnology journalDivergent growth of the transient brain compartments in fetuses with nonsyndromic isolated clefts involving the primary and secondary palate.
Cerebral cortex (New York, N.Y. : 1991)A Family with EEC Syndrome in the Son and ADULT Syndrome in His Father Caused by the c.797G>A (p.Arg266Gln) Pathogenic Variant in the TP63 Gene.
Molecular syndromologyCaregivers' perspectives of community acceptance before and after surgical treatment for their child's disability.
Child: care, health and developmentClinical details of individuals with Rauch-Steindl syndrome due to NSD2 truncating variants.
Molecular genetics & genomic medicineValidating the Modified Small Double Opposing Z-Plasty for Palatal Lengthening in Primary Palatoplasty.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association"US air pollution and increased incidence of non-syndromic cleft lip/palate": Association does not imply causality.
Journal of plastic, reconstructive & aesthetic surgery : JPRASPre-surgical Nasal Molding of a Two-Day-Old Neonate With Complete Unilateral Cleft Lip and Palate Using Passive Nasoalveolar Molding Technique: A Case Report.
CureusEFFECT OF BIOPSYCHOSOCIAL INTERVENTION ON BEAUTY SATISFACTION AFTER STAGED SURGERY AMONG ADOLESCENTS WITH ORAL FACIAL CLEFTS.
Georgian medical newsPrenatal incidence of cleft lip/palate and cocaine abuse in parents: a systematic review and meta-analysis.
BMC oral healthGrainyhead-like 2 interacts with noggin to regulate tissue fusion in mouse.
Development (Cambridge, England)The Use and Outcomes of 3D Printing in Pediatric Craniofacial Surgery: A Systematic Review.
The Journal of craniofacial surgeryAssociações
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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.
- Single vs dual genetic disease in children with congenital anomalies and solid tumors.
- The pediatric oral mycobiome: a comprehensive review of its role in health and disease.
- Pleiotropic genes linking congenital hypogonadotropic hypogonadism and cleft lip/palate: evidence from a genomic CHH cohort study.
- Clinical and genetic basis of congenital gonadotropin deficiency.
- A Novel Model System to Identify Cellular and Molecular Defects Underlying Rare Genetic Disorders.
- Associations Between Alcohol Dehydrogenase Mutations and Cleft Lip/Palate: A Scoping Review.
- Comparisons of longitudinal speech outcomes in children born with cleft palate ± cleft lip with and without additional conditions at 5 and 10 years -a registry study.
- Heterozygous CECR2 Variants Support a Distinct Neurodevelopmental Syndrome with Features Overlapping Cat Eye Syndrome.
- Use of Mesenchymal Stem Cells in Facial Bone Tissue Regeneration: An Overview of the Present.
- Septorhinoplasty in Congenital Craniofacial Anomalies: A Narrative Review of Contemporary Surgical Approaches.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:199306(Orphanet)
- MONDO:0016044(MONDO)
- GARD:17092(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Artigo Wikipedia(Wikipedia)
- Q222634(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
