Fissura labiopalatina - má rotação intestinal - cardiopatia é uma síndrome de anomalia congênita múltipla descrita em 5 pacientes até o momento, caracterizada por face plana, hipertelorismo, occipício plano, fissuras palpebrais inclinadas para cima, fenda palatina, micrognatia, pescoço curto e defeitos cardíacos congênitos graves que foram letais em 3 dos 5 pacientes relatados. Má rotação do intestino, clinodactilia bilateral, língua bilobada, quartos metatarsos curtos e polegares bífidos foram relatados em casos individuais. Não houve mais descrições na literatura desde 1997.
Introdução
O que você precisa saber de cara
Fissura labiopalatina - má rotação intestinal - cardiopatia é uma síndrome de anomalia congênita múltipla descrita em 5 pacientes até o momento, caracterizada por face plana, hipertelorismo, occipício plano, fissuras palpebrais inclinadas para cima, fenda palatina, micrognatia, pescoço curto e defeitos cardíacos congênitos graves que foram letais em 3 dos 5 pacientes relatados. Má rotação do intestino, clinodactilia bilateral, língua bilobada, quartos metatarsos curtos e polegares bífidos foram relatados em casos individuais. Não houve mais descrições na literatura desde 1997.
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
Encontrou um erro ou informação desatualizada? Sugira uma correção →
Entender a doença
Do básico ao detalhe, leia no seu ritmo
Preparando trilha educativa...
Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 5 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.
Linha do tempo da pesquisa
Encontrou um erro ou informação desatualizada? Sugira uma correção →
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 lábio-palatina-malrotação intestinal-cardiopatia
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.
Pesquisa ativa
Ensaios clínicos abertos e novidades científicas recentes
Pesquisa e ensaios clínicos
Nenhum ensaio clínico registrado para esta condição.
Publicações mais relevantes
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.
Quality of life in patients with craniofacial anomalies: personal experience and review of literature.
Craniofacial anomalies, particularly cleft lip and palate affecting 1 in 500 to 1 in 2,500 live births globally, exert profound influences on physical function, psychological well-being, and social integration throughout the entire life. While surgical advances have improved outcomes, the long-term impact on the quality of life remains incompletely understood, necessitating comprehensive evaluation of psychosocial outcomes following primary surgical repair. We conducted a cross-sectional comparative study evaluating 85 pediatric patients aged 4-7 years with surgically repaired non-syndromic cleft lip and/or palate and their caregivers, compared to 90 age-matched healthy controls. All patients underwent standardized surgical repair with minimum 24-month postoperative follow-up. Quality of life was assessed using the validated KINDL questionnaire administered to both children and parents, measuring physical well-being, emotional well-being, self-esteem, family relationships, friendships, and school functioning. Statistical analysis employed independent-samples t-tests and chi-square tests with significance set at p < 0.05. Children with cleft conditions demonstrated overall quality of life scores comparable to healthy controls (82.15 ± 14.72 vs 83.78 ± 16.72, respectively; 1.9% difference, not statistically significant). However, self-esteem scores were significantly lower in the cleft group (78.17 ± 24.79 vs 83.49 ± 22.17, p = 0.036). Parental assessments yielded high overall scores (80.38 ± 12.41) but identified significant concerns in self-esteem (72.41 ± 16.82) and infirmity perception (72.15 ± 17.67) (both p < 0.01). Age-stratified analysis revealed that children requiring reinterventions and older children (6-7 years) demonstrated greater family-related quality of life concerns. While children with surgically repaired cleft lip and/or palate achieve overall quality of life outcomes comparable to healthy peers, persistent self-esteem deficits indicate ongoing psychosocial challenges requiring comprehensive multidisciplinary intervention. These findings emphasize the need for holistic care approaches that integrate psychological support, targeted therapies, and family counseling to optimize both functional and psychosocial outcomes beyond primary surgical repair.
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.
The effects of anabolic-androgenic steroids administration on oral health in humans: a scoping review.
This scoping review aimed to evaluate the effects of anabolic-androgenic steroids (AAS) administration on oral health in humans, distinguishing between medical indications (e.g., replacement therapy) and abuse, while mapping their impact on oral conditions and identifying gaps in knowledge. A systematic search was conducted using PubMed, Cochrane Library, and Virtual Health Library databases. Search terms included keywords related to AAS, testosterone and specific oral health conditions such as dental caries, tooth loss/edentulism, periodontal disease, oral trauma, and oral cancer. Studies were screened and selected based on inclusion criteria: adult humans, AAS use and reported oral health outcomes, with findings interpreted separately according to medical indication (replacement vs. abuse). After screening, eight studies met the inclusion criteria. In the context of AAS abuse, users exhibited poorer periodontal health, with higher rates of severe periodontitis, increased gingival inflammation, and greater gingival thickness. Oral trauma studies indicated a higher frequency of temporomandibular dysfunction and malocclusion among users. A severe adverse event (Stevens-Johnson Syndrome) was also reported in one case of AAS abuse. Conversely, studies addressing medical indications found that therapeutic AAS administration was associated with reduced mucosal toxicity, decreased pain, and remission of aphthous lesions. No studies evaluating dental caries, tooth loss/edentulism, or cleft lip and palate were identified. The effect of AAS on human oral health is critically dependent on the context of administration. AAS abuse is associated with significant oral pathology, notably the increased severity of periodontal disease and risk of severe mucocutaneous adverse events. Conversely, AAS administered under medical indication demonstrated therapeutic potential in reducing treatment-related toxicity (e.g., in oral cancer) and promoting the resolution of recurrent soft tissue lesions (e.g., aphthous ulcers). It is recommended that future studies adopt well-designed sampling strategies in longitudinal studies to enhance clinicians' and researchers' understanding of its effects and mechanisms, ultimately enabling evidence-based recommendations or advisories for or against its use for oral conditions. Health professionals should be aware of the distinct oral health risks and benefits associated with AAS. AAS abuse represents a critical risk factor for severe periodontal pathology and potential mucocutaneous adverse events. Conversely, low-level evidence supports recognizing the therapeutic potential of medically indicated AAS as supportive care for conditions like chemotherapy/radiotherapy-induced mucositis and recurrent soft tissue lesions. Identifying gaps in the literature highlights the need for broader research to ensure the safe monitoring of individuals who use these substances.
Prenatal Fentanyl Exposure Association With Characteristic Neonatal Anomalies.
To investigate if previously described anomalies associated with fentanyl could be identified in our cohort of individuals with active fentanyl use in pregnancy. Potential cases of a novel syndrome were identified from a prospectively collected database of obstetric patients with substance use disorder enrolled in a multispecialty treatment program from 2014 to 2024 in this case series study. Suspected Fetal Fentanyl Syndrome (FFS) was defined as small head circumference (<10%ile) and at least one other sign: cleft palate, clubfoot, rocker bottom feet, toe syndactyly, single palmar crease, hypoplastic corpus callosum, and hypospadias. The database was screened for findings consistent with this syndrome resembling Smith-Lemli-Opitz Syndrome. From 2014 to 2024, 639 patients were enrolled in the cohort. Of the 103 patients found to have neonates with a small head circumference, 51 individuals self-reported fentanyl use within the last year. Six of these individuals had confirmatory toxicology testing for fentanyl upon program enrollment. Of these individuals' neonates, 4 displayed characteristic anomalies consistent with FFS. All cases shared lagging head growth, while additional anomalies identified included cleft palate (n=3), short nasal tip (n=1), thin upper lip (n=1), micrognathia (n=1), and hypospadias (n=1). Genetic screening/diagnostic testing varied but an assessment of cholesterol metabolism was not performed. In this cohort, 7.8% of individuals with self-reported fentanyl use had neonates with signs of the previously described FFS. FFS is a proposed syndrome and results should be interpreted with caution. Similar data is needed to confirm and delineate this association and determine long-term developmental effects.
Publicações recentes
Epidemiological characteristics and natural history of porphyria - a twenty-year population-based analysis in Taiwan.
EMA approved orphan medicines since the implementation of the orphan legislation.
Global variations in diagnostic methods and epidemiological estimates in Pompe disease: findings from a scoping review.
📖 RevisãoSafety analysis of self-administered enzyme replacement therapy using data from the Fabry Outcome and Gaucher Outcome Surveys.
🥈 ObservacionalComprehensive Iranian guidelines for the diagnosis and management of maple syrup urine disease: an evidence- and consensus- based approach.
📖 Revisão📚 EuropePMCmostrando 198
Quality of life in patients with craniofacial anomalies: personal experience and review of literature.
Medicine and pharmacy reportsClinical and genetic basis of congenital gonadotropin deficiency.
Human reproduction openThe effects of anabolic-androgenic steroids administration on oral health in humans: a scoping review.
The Journal of sports medicine and physical fitnessPrenatal Fentanyl Exposure Association With Characteristic Neonatal Anomalies.
Journal of addiction medicineComparative Analysis of Airway Volume and Velum Morphology in Primary Furlow Palatoplasty: Conventional vs. Small-Z Design.
Plastic and reconstructive surgeryMatrix metalloproteinase-3 (MMP3) in non-syndromic cleft lip and palate: extracellular matrix remodeling, developmental signaling, and molecular mechanisms.
Biochemical and biophysical research communicationsCleft Lip and Palate is Common in PORCN-Related Focal Dermal Hypoplasia in Asians: Three New Case Reports and Literature Review.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationFacial-palate correlation in unilateral cleft lip and palate: A data-driven 3D analysis.
Journal of cranio-maxillo-facial surgery : official publication of the European Association for Cranio-Maxillo-Facial SurgeryWhat We Learnt in Unilateral Cleft Lip Repair Between Millard's and Tennison-Randall's Techniques: Comparison of the Outcomes in Adult Patients.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationPerioperative Care of a Four-Year-Old Child With Teebi Hypertelorism Syndrome: A Rare Craniofacial Disorder.
Journal of medical casesA Novel Model System to Identify Cellular and Molecular Defects Underlying Rare Genetic Disorders.
Experimental dermatologyGenetic variants in Ecuadorian families: unraveling the complexity of non-syndromic cleft lip and palate a case series.
BMC oral healthDo Patients With Cleft Lip and Palate Have an Increased Risk of Short-Term Complications After Le Fort I Osteotomy?
The Journal of craniofacial surgeryComparative Evaluation of Sella Turcica Morphology and Dimensions in Skeletal Class III Malocclusion and Cleft Lip and Palate Patients Versus Class I Individuals.
Clinical and experimental dental researchMorphological Changes Occur in the Brains of Children With Non-Syndromic Cleft Lip and Palate After Speech Therapy.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationScreening for Obstructive Sleep Apnoea in Patients With Cleft Lip and/or Palate in Saudi Arabia.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationA Population-Based Study of U.S. Trends in Selected Congenital Anomalies (2016-2023) and Socio-Demographic Disparities: A CDC WONDER Analysis.
Children (Basel, Switzerland)Orofacial clefting in PHF6-related Börjeson-Forssman-Lehmann syndrome.
BMJ case reportsCephalometric Comparison of Le Fort I Osteotomy in Growing and Non-Growing Patients With Clefts: A Retrospective Study.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationThree-Dimensional Morphological Evaluation of the Maxillary Sinus in Individuals With Cleft Lip and Palate and Skeletal Malocclusion.
Journal of oral and maxillofacial surgery : official journal of the American Association of Oral and Maxillofacial SurgeonsStereophotogrammetry as a Precise and Accurate Method for Facial Analysis in Patients With Cleft Lip and Palate Undergoing Orthognathic Surgery.
Journal of oral and maxillofacial surgery : official journal of the American Association of Oral and Maxillofacial SurgeonsExploring Sleep Behavior and Language Outcomes in Children with Cleft Lip and Palate Using Data from a National Cohort Study.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationExpansion of the 3MC Syndrome Spectrum: Novel COLEC10 Variants and a MASP1 Exon-Level Deletion.
American journal of medical genetics. Part ALong-term effects of nasoalveolar molding in non-syndromic bilateral cleft lip and palate patients: a systematic review protocol.
JBI evidence synthesisNotch signaling in the embryonic ectoderm promotes periderm cell fate and represses mineralization of vibrissa hair follicles.
bioRxiv : the preprint server for biologyLoss of SPECC1L in cranial neural crest cells results in increased hedgehog signaling and frontonasal dysplasia.
Frontiers in physiologyTrends in non-syndromic cleft lip and palate research: A bibliometric analysis.
Journal of stomatology, oral and maxillofacial surgery[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 geneticsMinor modification of soft palate surgical technique resulted in a considerable increase of residual cleft dimensions for unilateral cleft lip and palate.
Journal of plastic surgery and hand surgery[Prenatal ultrasound manifestations and postnatal follow-up of fetuses with 22q11.2 microdeletion syndrome].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical geneticsEvaluation of presurgical infant orthopedics by the rhinoplasty appliance system with intraoral alveolar molding appliance in infants with bilateral cleft lip and palate: A preliminary study.
International orthodonticsVirtual Surgical Planning (VSP) in Orthognathic Surgery for Non-Syndromic Cleft Patients: A Scoping Review of Trends and Clinical Outcomes.
Journal of clinical medicineDigital Technologies in Diagnosing Solitary Median Maxillary Central Incisor Syndrome.
Children (Basel, Switzerland)Genetic Associations with Non-Syndromic Cleft Lip/Palate and Dental Caries in Kuwaiti Patients: A Case-Control Study.
Dentistry journalParental knowledge and barriers to cleft lip and palate care: a cross-cultural study from the Middle East and South Asia.
Frontiers in public healthBone-on-Bone Telescopic Fixation With Step-Plate Stabilization: A Novel Approach for Enhanced Stability in LeFort I Maxillary Advancement for Cleft-Related Hypoplasia.
CureusMultisystem Comorbidities Associated With Orofacial Dysfunction in the Appalachian Region: A Retrospective Analysis.
Plastic and reconstructive surgery. Global openA Comparative Study on Vertical and Transverse Orthodontic Relapse in Patients with and Without Cleft Lip and Palate.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationPrenatal diagnosis of Blepharo-Cheilo-Dontic syndrome: a case report.
Archives of gynecology and obstetricsMalformation Pattern and Molecular Findings in the FGFR1-Related Hartsfield Syndrome Phenotype.
Medical sciences (Basel, Switzerland)Orthodontic Appliance-Related Mucosal Ulcerations in Newborns and Infants With Craniofacial Disorders.
Clinical and experimental dental researchParental knowledge and access barriers in the management of cleft lip and/or palate: A cross-sectional study from Saudi Arabia.
MedicineSuccessful Respiratory Management Using Synchronized Nasal Intermittent Positive Pressure Ventilation for Abnormal Breath Patterns Associated With Joubert Syndrome.
CureusThe role of Rho GTPases in facial morphogenesis.
Developmental dynamics : an official publication of the American Association of AnatomistsCraniofacial features associated with Hutchinson - Gilford progeria syndrome - A case report.
Stomatologijars2033806 at PAX3 Gene Associated with Non-syndromic Oral Cleft among the Chinese Population.
The Chinese journal of dental researchThe Suggestive Association Between the NOG rs227731 Polymorphism and Non-Syndromic Cleft Lip With or Without Palate Subtypes in a Japanese Cohort.
Congenital anomaliesComparison of palatal lengthening and perioperative outcomes of Furlow's Z-plasty versus von Langenbeck's palatoplasty in children with complete, non-syndromic cleft palate: a randomized controlled trial in India.
Archives of craniofacial surgeryAssociated congenital malformations, syndromes, and medical conditions in patients with orofacial clefts: a 10-year hospital-based study in Thailand.
Frontiers in oral healthRisk factors associated with hearing loss in neonates: A retrospective cross-sectional study from Qatar.
Qatar medical journalDental anomalies in subjects with non-syndromic cleft lip and palate.
Stomatologija[Research progress on regulatory variants in non-coding regions in non-syndromic cleft lip with or without cleft palate].
Zhonghua kou qiang yi xue za zhi = Zhonghua kouqiang yixue zazhi = Chinese journal of stomatologyExpanding the Genetic Spectrum of Non-Syndromic Cleft Lip and Palate Through Whole-Exome Sequencing.
International journal of molecular sciencesSuccessful Premaxillary Reconstruction and Oronasal Fistula Closure in a Patient With VATER Syndrome With Bilateral Cleft and Missing Premaxilla.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationSpeech outcomes following Le Fort I maxillary advancement in cleft lip and palate patients: A retrospective evaluation using the Borel-Maisonny classification.
Journal of stomatology, oral and maxillofacial surgeryCase of a Male Patient With Focal Dermal Hypoplasia (Goltz Syndrome), Esophageal Polyps, Scoliosis, and Bicuspid Aortic Valve.
CureusTherapeutic p63 isoform switching rescues epidermal defects in AEC syndrome.
Molecular therapy : the journal of the American Society of Gene Therapy[Parent-of-origin effects of FGF/FGFR signaling pathway candidate gene polymorphisms on the risk of non-syndromic cleft lip with or without cleft palate].
Zhonghua liu xing bing xue za zhi = Zhonghua liuxingbingxue zazhiSurgical Management of Severe Congenital Ptosis: A Systematic Review.
The Journal of craniofacial surgeryMorphometric Evaluation of the Pterygomaxillary Suture in Patients with Unilateral and Bilateral Cleft Lip and Palate Using Cone-Beam Computed Tomography.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationLikely Pathogenic/Pathogenic Variants in the Spliceosome Complex Genes SNRNP200, SF3B1, SF3B2, and SF3B4 Implicated in Nonsyndromic Orofacial Cleft.
Human mutationClinical outcomes of gingivoperiosteoplasty performed in early childhood in patients with bilateral cleft lip and palate.
Journal of cranio-maxillo-facial surgery : official publication of the European Association for Cranio-Maxillo-Facial SurgeryCleft Lip and Palate: Prenatal Diagnosis, Genetic Testing, and Pregnancy Outcomes in a Tertiary Referral Center.
Acta medica portuguesaSurgeon Perspectives on Cleft Lip and Palate Repair in Patients With Life-Limiting and Terminal Illnesses: An ACPA Member Survey.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationA Candidate Gene for Cerebro-Oculo-Nasal Syndrome: A Zinc-Finger Gene ZNF185 Located at Xq28.
Molecular syndromologyPrevalence of Dental Anomalies in Primary vs. Permanent Dentition in Individuals with Non-Syndromic Cleft Lip and Palate: A Systematic Review and Meta-Analysis.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationOral health-related quality of life and dental occlusion before and after alveolar and hard palate reconstruction at the time of mixed dentition.
Frontiers in oral healthPrediction of Speech-Correcting Surgery in Patients With a Cleft Palate After Primary Palatoplasty: A Logistic Regression Model.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationA three-dimensional comparison of the upper airway between patients with non-syndromic cleft lip and palate and skeletal class I individuals.
Journal of stomatology, oral and maxillofacial surgerySmartphone and AI Workflow for 3D Printed Plate for Presurgical Therapy in Cleft Lip and Palate: Retrospective Evaluation of Outcomes.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationAssociations Between Dermatoglyphic Patterns and Oral Diseases in Children: A Systematic Review and Meta-Analysis.
CureusPalatal subunits analysis in unilateral cleft lip and palate compared to controls: A comparative cohort study.
Journal of plastic, reconstructive & aesthetic surgery : JPRASBilateral Palatal Synechiae With Cleft Palate: A Rare Entity.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationAdvancements 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 medicineAesthetics Are in the Eye of the Beholder: Evaluation of the Nasolabial Appearance After Primary Cleft Lip Repair.
Journal of clinical medicinePrerepair 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 AssociationCleft@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 surgeryAn 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 geneticsFaltering 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 reportsEctrodactyly, Cleft Lip/Palate, and Urinary Anomalies With a Tumor Protein p63 (TP63) Mutation: A Case Report and Literature Review.
CureusPrevalence 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 surgeryNasal Glioma in a Newborn With Suspected Pai Syndrome: Surgical and Diagnostic Insights.
The Journal of craniofacial surgeryGenetic heterogeneity and homogeneity among orofacial cleft subtypes: genome-wide association studies in the cleft collective.
Human molecular geneticsComparative Analysis of Maxillary Sinus Volume in Patients With Cleft Lip and Palate Versus Class III Malocclusion Patients Using CBCT.
Orthodontics & craniofacial researchPresurgical 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 dentistryMature Cleft Rhinoplasty: Morphologic Outcomes of Septal Cartilage Grafting.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationThree-dimensional longitudinal assessment of nasal development with and without Nasoalveolar molding therapy in cleft lip and palate patients.
Clinical oral investigationsIdentification 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 surgeryAnxiety in Caregivers of Chinese Children Under 3 Years Old with Cleft Lip or Palate.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationExploring prenatal risk factors associated with congenital anomalies among newborns in national referral hospital, Indonesia.
The Medical journal of MalaysiaWNT4 deficiency impacts heart, diaphragm, and palate development: Insights from human genetics, machine learning, and mouse models.
Developmental biologyCausal Links Between Psychiatric Disorders, Sleep Apnea, and Oral and Maxillofacial Diseases Modules: A Mendelian Randomization Study.
The Journal of craniofacial surgeryA Scoping Review of Socioeconomic Factors in Orofacial Cleft Research.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationComparative 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 SurgeonsPalate-first versus lip-first surgical repair sequence in unilateral cleft lip, alveolus, and palate: A retrospective cephalometric comparison of maxillary growth at 5-year follow-up.
Journal of cranio-maxillo-facial surgery : official publication of the European Association for Cranio-Maxillo-Facial SurgeryTrends in orofacial cleft prevalence and the effect of prenatal detection on pregnancy outcomes in Northern Netherlands.
Annals of epidemiologyNevoid Basal Cell Carcinoma Syndrome Associated With Cleft Lip and Palate: A Case Report and Literature Review.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationInfluence of Cupid's Bow Peak Placement on Nasolabial Formation in Unilateral Cleft Lip Repair.
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 medicineA Clinical Study of 2253 Cases of Primary and Secondary Defects Associated With Non-Syndromic Orofacial Clefts in Somalia: The First Report of Charity Operation by the Bela Risu Foundation in Somalia.
Congenital anomaliesCancer Risk and Genetic Associations in Individuals With Cleft Lip and Palate and Their Families: A Narrative Review.
Birth defects researchA Case of CHARGE Syndrome with a Novel Intronic Variant in the CHD7 Gene.
Journal of clinical research in pediatric endocrinologySupport Needs of Parents of Children With Congenital Anomalies Across Europe: A EUROlinkCAT Survey.
Child: care, health and development[Advances in animal models and multi-omics technologies for cleft palate research].
Zhonghua kou qiang yi xue za zhi = Zhonghua kouqiang yixue zazhi = Chinese journal of stomatology[Association analysis of methylation-related genes TET1 and NSD1 with non-syndromic orofacial clefts].
Zhonghua kou qiang yi xue za zhi = Zhonghua kouqiang yixue zazhi = Chinese journal of stomatologyRare variants in PRKCI cause Van der Woude syndrome and other features of peridermopathy.
American journal of human geneticsCleft lip and palate are associated with a higher prevalence of molar-incisor hypomineralisation: a cross-sectional study with a comparison group.
European archives of paediatric dentistry : official journal of the European Academy of Paediatric DentistryGene-by-Environment Interactions Involving Maternal Exposures with Orofacial Cleft Risk in Filipinos.
Genes"Airway-First, Heart-Early" Strategy: Managing Neonatal Dextro-Transposition of the Great Arteries in Pierre Robin Sequence.
CureusAssociation of VAX1, MAFB, WNT3 with Non-Syndromic Cleft Lip with or without Cleft Palate in a Japanese Population.
GenesGene-Sex Interaction in Non-Syndromic Orofacial Cleft Subtypes: A Case-Control Study Among the Vietnamese Population.
GenesEtiology of Cleft Lip and/or Cleft Palate in Southeastern Poland Based on Current Observational Study.
Journal of clinical medicineEvaluation of dental and skeletal age among unilateral cleft lip and palate patients in an eastern Indian population.
The Journal of forensic odonto-stomatologySingle-cell transcriptomics reveal oxidative phosphorylation and oxidative stress in the superior temporal plane of non-syndromic cleft lip and palate fetuses.
Life sciencesAttention Skills in Children With Nonsyndromic Cleft Lip and Palate.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationManagement of Middle Third Hypoplasia Using Rigid External Device: Long-Term Analysis of Results and Report of Complications.
The Journal of craniofacial surgeryA critical review of the prevalence of cleft lip and cleft palate in Arab countries.
Eastern Mediterranean health journal = La revue de sante de la Mediterranee orientale = al-Majallah al-sihhiyah li-sharq al-mutawassitAutism Spectrum Disorder in the Cleft Population: Evaluating Occurrence in Non-Syndromic Patients.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationManagement of Congenital Palatal Fistula Associated With Wiskott-Aldrich Syndrome.
CureusGenetic testing for oral clefts: reflections based on a single Brazilian public genetics service.
Orphanet journal of rare diseasesAirway Management in Children Undergoing Cleft Lip or Cleft Palate Surgery: An 8-Year Retrospective Analysis of 274 Cases.
Paediatric anaesthesiaAll-trans Retinoic Acid regulates cellular senescence of mouse embryonic palatal mesenchyme (MEPM) cells in developing cleft palates.
Reproductive toxicology (Elmsford, N.Y.)Comparison of secondary surgery before and after centralisation of cleft services in the UK: a whole-island cross-sectional analysis.
BMJ openPrenatal Diagnosis of Hartsfield Syndrome in the Fetus With Isolated Ectrodactyly Caused by a Novel Variant in FGFR1.
American journal of medical genetics. Part AMAX-Related Disorder: Expanding the Phenotype of the Recurrent p.Arg60Gln Variant.
American journal of medical genetics. Part AAlveolar cleft repair: A 30-year follow-up.
Journal of plastic, reconstructive & aesthetic surgery : JPRASMultidisciplinary Airway Management and Postoperative Planning in a Pediatric Patient With Unrepaired Treacher-Collins Syndrome: A Case Report.
CureusEffects of Maxillary Protraction Techniques on Maxillofacial, Dental, and Soft Tissue Outcomes in Patients With Non-Syndromic Unilateral Cleft Lip and Palate: A Systematic Review and Meta-Analysis.
Orthodontics & craniofacial researchMissense Variant Met119Val in ACTB in a Patient with Baraitser-Winter Syndrome Type 1 and Mild Intellectual Disability.
Molecular syndromologyPrenatal genetic findings using karyotyping and chromosomal microarray analysis in the first-occurrence typical orofacial clefts.
Molecular biology reportsAdverse Events Following Palatoplasty in Patients With Robin Sequence: The Impact of Prior Airway Treatment.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationEpidemiologic Assessment and Quality of Life Impact of Sinonasal Disease in Cleft Lip and Palate.
The LaryngoscopeAssessment of symmetry and parental satisfaction after use of customized nasal conformers in unilateral cleft lip repair: a randomized controlled clinical trial.
Head & face medicineGenetic modulation of lncPSMB1 confers non-syndromic cleft lip with or without cleft palate susceptibility by promoting cell apoptosis.
Communications biologyLncRNA FENDRR Inhibits Mitochondrial Apoptosis via TET2-Mediated DNA Demethylation of MFN1 in NSCPO.
Oral diseasesGrisel's Syndrome a Rare Complication of Pharyngoplasty: A Case Report and Literature Review.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationLong-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 AssociationRemote Online vs. Onsite Rating of GOSLON Yardstick Using Digital Models.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationIdentifying New Susceptibility Gene of Nonsyndromic Orofacial Cleft Based on Syndromes Accompanied With Hypertelorism.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationEnhanced Sutural Protraction: An Innovative Orthopedic Protocol for Midfacial Advancement in Growing Patients.
The Journal of craniofacial surgeryGalectin-10 Characterization in Cleft Lip Palate - Affected Palatal Tissue.
Acta medica LituanicaCleft Lip Appearance Secondary to Ulcerating Hemangioma.
CureusFunctional Annotation of De Novo Variants Found Near GWAS Loci Associated With Cleft Lip With or Without Cleft Palate.
Birth defects researchPerinatal Airway Risk for Individuals With Isolated Cleft Spectrum.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationExome 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 AssociationMultimodality Craniofacial Phenotyping of Congenital Facial Weakness Disorders.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationCri du Chat Syndrome and congenital dislocation of the hips and knees: case report.
Revista de la Facultad de Ciencias Medicas (Cordoba, Argentina)A Comparison of Speech Outcomes Among Patients With Syndromic Cleft Palate: A 20-year Review.
The Journal of craniofacial surgeryClarifying the Relationship Between Orbito-Zygomatic and Mandibular Dysmorphology in Treacher Collins Syndrome.
The Journal of craniofacial surgeryLower labial vermilion myomucosal flap for commissuroplasty of Tessier 7 transverse facial cleft.
International journal of pediatric otorhinolaryngologyThe relationship between maternal periodontitis and congenital cytomegalovirus: A hypothetical model and therapeutic implications.
Periodontology 2000Does Tooth Removal at the Time of Secondary Alveolar Bone Grafting Influence the Outcome for Cleft Patients?
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationQuestionnaire survey of patient families and dental school students regarding non-syndromic cleft lip and/or palate in the Federal Democratic Republic of Ethiopia.
Congenital anomaliesAnkyloblepharon-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 sciencesExome Sequencing Reveals the Genetic Architecture of Non-syndromic Orofacial Clefts and Identifies BOC as a Novel Causal Gene.
Advanced science (Weinheim, Baden-Wurttemberg, Germany)Descriptive epidemiology of orofacial clefts in South Australia.
Journal of cranio-maxillo-facial surgery : official publication of the European Association for Cranio-Maxillo-Facial SurgeryRole of MSX1 in the development of non-syndromic clefts in the sub-Himalayan region of India.
The British journal of oral & maxillofacial surgeryNovel susceptibility gene SLC23A2 functions via PI3K-AKT-mTOR pathway in etiology of non-syndromic cleft palate.
Journal of human geneticsThe 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 SurgeonsArhgap29 Deficiency Directly Leads to Systemic and Craniofacial Skeletal Abnormalities.
International journal of molecular sciencesIntrafamilial Phenotypic Variability of the FGFR1 p.Cys277Tyr Variant: A Case Report and Review of the Literature.
GenesFirst-Trimester Morphological Evaluation of Fetuses and Medical Law Implications.
Diagnostics (Basel, Switzerland)Taurus Philtrum: A Newly Identified Phenomenon in Overfilled Syndrome.
Aesthetic plastic surgeryCraniofacial 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 dermatologySpeech Outcomes After Secondary Furlow Z-Plasty and Pharyngeal Flap Procedure.
The Journal of craniofacial surgeryMidline defect with corpus callosum agenesis, vermian hypoplasia and median cleft lip palate.
Case reports in perinatal medicineHow Cleft Type and Width Affect the Rate of Secondary Palatal Surgery and Articulation Proficiency in 5-Year-Olds With Cleft Palate.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationThe Functional Impact of the Noncoding SNP rs3741442 on Orofacial Clefting.
Journal of dental researchGrowth Parameters in Children with Non-syndromic Cleft Lip and Palate versus Healthy Controls: A Cohort Study from Riyadh, Saudi Arabia.
Saudi journal of medicine & medical sciences[Advances in the study of signaling pathways in Global developmental delay /Intellectual disability combined with congenital craniofacial malformation].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical geneticsA systematic review of congenital external ear anomalies and their associated factors.
Frontiers in pediatricsPrenatal Diagnosis and Clinical Phenotypic Heterogeneity of 22q11.2 Microdeletion Syndrome Based on a Single Center Retrospective Study.
Journal of clinical laboratory analysisNovel homozygous mutation in the human RAX homeobox gene in a patient with bilateral anophthalmia and severe endocrine dysfunction - a case report and literature review.
Case reports in perinatal medicineFour-year follow-up comparison of three pre-surgical infant orthopedic methods on mandibular arch morphology in unilateral cleft lip and palate: A retrospective study.
International orthodonticsA Novel Advantage to Microtia Reconstruction Utilizing Ear Molding: A Case Report of Goldenhar Syndrome's Clinical Presentation and Surgical Reconstruction.
CureusHearing Loss in 5-Year-Old and 12-Year-Old Patients With a Cleft Palate and Evaluating Standardized Assessment Methods.
The Journal of craniofacial surgeryRisk of Early Childhood Dental Caries Associated With Prolonged Breastfeeding: A Systematic Review and Meta-Analysis.
International journal of paediatric dentistryPrevalence of upper cervical vertebral anomalies in children with non-syndromic cleft lip and/or palate in comparison with children without cleft in Iranian population.
BMC oral healthThe impact of maternal stress on non-syndromic clefts: a retrospective case-control study.
European archives of paediatric dentistry : official journal of the European Academy of Paediatric DentistryAssociações
Organizações que acompanham esta doença — pra ter apoio e orientação
Ainda não temos associações cadastradas para Síndrome de fenda lábio-palatina-malrotação intestinal-cardiopatia.
É de uma associação que acompanha esta doença? Fale com a gente →
Comunidades
Grupos ativos de quem convive com esta doença aqui no Raras
Ainda não existe comunidade no Raras para Síndrome de fenda lábio-palatina-malrotação intestinal-cardiopatia
Pacientes, familiares e cuidadores se organizam em comunidades pra compartilhar experiências, fazer perguntas e se apoiar. Você pode ser o primeiro.
Tire suas dúvidas
Perguntas, dicas e experiências compartilhadas aqui na página
Participe da discussão
Faça login para postar dúvidas, compartilhar experiências e interagir com especialistas.
Fazer loginDoenças relacionadas
Doenças com sintomas parecidos — ajudam quem ainda está buscando diagnóstico
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.
- Orofacial clefting in PHF6-related Börjeson-Forssman-Lehmann syndrome.
- Quality of life in patients with craniofacial anomalies: personal experience and review of literature.
- Clinical and genetic basis of congenital gonadotropin deficiency.
- The effects of anabolic-androgenic steroids administration on oral health in humans: a scoping review.
- Prenatal Fentanyl Exposure Association With Characteristic Neonatal Anomalies.
- Epidemiological characteristics and natural history of porphyria - a twenty-year population-based analysis in Taiwan.
- EMA approved orphan medicines since the implementation of the orphan legislation.
- Global variations in diagnostic methods and epidemiological estimates in Pompe disease: findings from a scoping review.
- Safety analysis of self-administered enzyme replacement therapy using data from the Fabry Outcome and Gaucher Outcome Surveys.
- Comprehensive Iranian guidelines for the diagnosis and management of maple syrup urine disease: an evidence- and consensus- based approach.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:2001(Orphanet)
- OMIM OMIM:601165(OMIM)
- MONDO:0011008(MONDO)
- GARD:3430(GARD (NIH))
- Busca completa no PubMed(PubMed)
- Q55782994(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