Raras
Buscar doenças, sintomas, genes...
Síndrome de fenda lábio-palatina-malrotação intestinal-cardiopatia
ORPHA:2001CID-10 · Q87.8OMIM 601165DOENÇA RARA

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.

Mantido por Agente Raras·Colaborar como especialista →

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

CLASSIFICAÇÃO ORPHANET · BRASIL 2024
<1 / 1 000 000
Ultra-rara
<1/50k
Muito rara
1/20k
Rara
1/10k
Pouco freq.
1/5k
Incomum
1/2k
Prevalência
0.0
Worldwide
Casos conhecidos
5
pacientes catalogados
Início
Neonatal
🏥
SUS: Cobertura mínimaScore: 15%
CID-10: Q87.8
🇧🇷Dados SUS / DATASUS
PROCEDIMENTOS SIGTAP (5)
0202010503
Cariótipo — bandas G, Q ou Rgenetic_test
0202010600
Pesquisa de microdeleções/microduplicações por FISHlab_test
0202010694
Sequenciamento completo do exoma (WES)rehabilitation
0202010260
Dosagem de alfa-fetoproteína
0301070040
Atendimento em reabilitação — doenças raras
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Entender a doença

Do básico ao detalhe, leia no seu ritmo

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Sinais e sintomas

O que aparece no corpo e com que frequência cada sintoma acontece

Partes do corpo afetadas

😀
Face
3 sintomas
❤️
Coração
3 sintomas
🦴
Ossos e articulações
2 sintomas
🫃
Digestivo
1 sintomas

+ 5 sintomas em outras categorias

Características mais comuns

90%prev.
Face plana
Muito frequente (99-80%)
90%prev.
Micrognatia
Muito frequente (99-80%)
90%prev.
Hipertelorismo
Muito frequente (99-80%)
90%prev.
Occipital plano
Muito frequente (99-80%)
90%prev.
Morfologia anormal do sistema cardiovascular
Muito frequente (99-80%)
90%prev.
Pescoço curto
Muito frequente (99-80%)
14sintomas
Muito frequente (6)
Frequente (3)
Ocasional (5)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 14 características clínicas mais associadas, ordenadas por frequência.

Face planaFlat face
Muito frequente (99-80%)90%
MicrognatiaMicrognathia
Muito frequente (99-80%)90%
HipertelorismoHypertelorism
Muito frequente (99-80%)90%
Occipital planoFlat occiput
Muito frequente (99-80%)90%
Morfologia anormal do sistema cardiovascularAbnormal cardiovascular system morphology
Muito frequente (99-80%)90%

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Últimos 10 anos200publicações
Pico2025142 papers
Linha do tempo
2026Hoje · 2026📈 2025Ano de pico
Publicações por ano (últimos 10 anos)

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

Carregando...

Tratamento e manejo

Remédios, cuidados de apoio e o que precisa acompanhar

Carregando informações de tratamento...

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

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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.

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Publicações mais relevantes

📖Melhor nível de evidência: Revisão
Timeline de publicações
0 papers (10 anos)
#1

Orofacial clefting in PHF6-related Börjeson-Forssman-Lehmann syndrome.

BMJ case reports2026 Feb 25

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.

#2

Quality of life in patients with craniofacial anomalies: personal experience and review of literature.

Medicine and pharmacy reports2026 Jan

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.

#3

Clinical and genetic basis of congenital gonadotropin deficiency.

Human reproduction open2026

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.

#4

The effects of anabolic-androgenic steroids administration on oral health in humans: a scoping review.

The Journal of sports medicine and physical fitness2026 Mar 20

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.

#5

Prenatal Fentanyl Exposure Association With Characteristic Neonatal Anomalies.

Journal of addiction medicine2026 Mar 20

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

Ver todas no PubMed

📚 EuropePMCmostrando 198

2026

Quality of life in patients with craniofacial anomalies: personal experience and review of literature.

Medicine and pharmacy reports
2026

Clinical and genetic basis of congenital gonadotropin deficiency.

Human reproduction open
2026

The effects of anabolic-androgenic steroids administration on oral health in humans: a scoping review.

The Journal of sports medicine and physical fitness
2026

Prenatal Fentanyl Exposure Association With Characteristic Neonatal Anomalies.

Journal of addiction medicine
2026

Comparative Analysis of Airway Volume and Velum Morphology in Primary Furlow Palatoplasty: Conventional vs. Small-Z Design.

Plastic and reconstructive surgery
2026

Matrix metalloproteinase-3 (MMP3) in non-syndromic cleft lip and palate: extracellular matrix remodeling, developmental signaling, and molecular mechanisms.

Biochemical and biophysical research communications
2026

Cleft 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 Association
2026

Facial-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 Surgery
2026

What 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 Association
2026

Perioperative Care of a Four-Year-Old Child With Teebi Hypertelorism Syndrome: A Rare Craniofacial Disorder.

Journal of medical cases
2026

A Novel Model System to Identify Cellular and Molecular Defects Underlying Rare Genetic Disorders.

Experimental dermatology
2026

Genetic variants in Ecuadorian families: unraveling the complexity of non-syndromic cleft lip and palate a case series.

BMC oral health
2026

Do Patients With Cleft Lip and Palate Have an Increased Risk of Short-Term Complications After Le Fort I Osteotomy?

The Journal of craniofacial surgery
2026

Comparative 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 research
2026

Morphological 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 Association
2026

Screening 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 Association
2026

A Population-Based Study of U.S. Trends in Selected Congenital Anomalies (2016-2023) and Socio-Demographic Disparities: A CDC WONDER Analysis.

Children (Basel, Switzerland)
2026

Orofacial clefting in PHF6-related Börjeson-Forssman-Lehmann syndrome.

BMJ case reports
2026

Cephalometric 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 Association
2026

Three-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 Surgeons
2026

Stereophotogrammetry 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 Surgeons
2026

Exploring 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 Association
2026

Expansion of the 3MC Syndrome Spectrum: Novel COLEC10 Variants and a MASP1 Exon-Level Deletion.

American journal of medical genetics. Part A
2026

Long-term effects of nasoalveolar molding in non-syndromic bilateral cleft lip and palate patients: a systematic review protocol.

JBI evidence synthesis
2026

Notch signaling in the embryonic ectoderm promotes periderm cell fate and represses mineralization of vibrissa hair follicles.

bioRxiv : the preprint server for biology
2026

Loss of SPECC1L in cranial neural crest cells results in increased hedgehog signaling and frontonasal dysplasia.

Frontiers in physiology
2026

Trends in non-syndromic cleft lip and palate research: A bibliometric analysis.

Journal of stomatology, oral and maxillofacial surgery
2025

[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 genetics
2026

Minor 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
2026

[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 genetics
2026

Evaluation 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 orthodontics
2026

Virtual Surgical Planning (VSP) in Orthognathic Surgery for Non-Syndromic Cleft Patients: A Scoping Review of Trends and Clinical Outcomes.

Journal of clinical medicine
2025

Digital Technologies in Diagnosing Solitary Median Maxillary Central Incisor Syndrome.

Children (Basel, Switzerland)
2026

Genetic Associations with Non-Syndromic Cleft Lip/Palate and Dental Caries in Kuwaiti Patients: A Case-Control Study.

Dentistry journal
2025

Parental knowledge and barriers to cleft lip and palate care: a cross-cultural study from the Middle East and South Asia.

Frontiers in public health
2025

Bone-on-Bone Telescopic Fixation With Step-Plate Stabilization: A Novel Approach for Enhanced Stability in LeFort I Maxillary Advancement for Cleft-Related Hypoplasia.

Cureus
2026

Multisystem Comorbidities Associated With Orofacial Dysfunction in the Appalachian Region: A Retrospective Analysis.

Plastic and reconstructive surgery. Global open
2026

A 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 Association
2026

Prenatal diagnosis of Blepharo-Cheilo-Dontic syndrome: a case report.

Archives of gynecology and obstetrics
2025

Malformation Pattern and Molecular Findings in the FGFR1-Related Hartsfield Syndrome Phenotype.

Medical sciences (Basel, Switzerland)
2026

Orthodontic Appliance-Related Mucosal Ulcerations in Newborns and Infants With Craniofacial Disorders.

Clinical and experimental dental research
2026

Parental knowledge and access barriers in the management of cleft lip and/or palate: A cross-sectional study from Saudi Arabia.

Medicine
2025

Successful Respiratory Management Using Synchronized Nasal Intermittent Positive Pressure Ventilation for Abnormal Breath Patterns Associated With Joubert Syndrome.

Cureus
2026

The role of Rho GTPases in facial morphogenesis.

Developmental dynamics : an official publication of the American Association of Anatomists
2025

Craniofacial features associated with Hutchinson - Gilford progeria syndrome - A case report.

Stomatologija
2025

rs2033806 at PAX3 Gene Associated with Non-syndromic Oral Cleft among the Chinese Population.

The Chinese journal of dental research
2026

The Suggestive Association Between the NOG rs227731 Polymorphism and Non-Syndromic Cleft Lip With or Without Palate Subtypes in a Japanese Cohort.

Congenital anomalies
2025

Comparison 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 surgery
2025

Associated congenital malformations, syndromes, and medical conditions in patients with orofacial clefts: a 10-year hospital-based study in Thailand.

Frontiers in oral health
2025

Risk factors associated with hearing loss in neonates: A retrospective cross-sectional study from Qatar.

Qatar medical journal
2025

Dental anomalies in subjects with non-syndromic cleft lip and palate.

Stomatologija
2025

[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 stomatology
2025

Expanding the Genetic Spectrum of Non-Syndromic Cleft Lip and Palate Through Whole-Exome Sequencing.

International journal of molecular sciences
2025

Successful 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 Association
2025

Speech 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 surgery
2025

Case of a Male Patient With Focal Dermal Hypoplasia (Goltz Syndrome), Esophageal Polyps, Scoliosis, and Bicuspid Aortic Valve.

Cureus
2025

Therapeutic p63 isoform switching rescues epidermal defects in AEC syndrome.

Molecular therapy : the journal of the American Society of Gene Therapy
2025

[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 zazhi
2025

Surgical Management of Severe Congenital Ptosis: A Systematic Review.

The Journal of craniofacial surgery
2025

Morphometric 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 Association
2025

Likely Pathogenic/Pathogenic Variants in the Spliceosome Complex Genes SNRNP200, SF3B1, SF3B2, and SF3B4 Implicated in Nonsyndromic Orofacial Cleft.

Human mutation
2026

Clinical 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 Surgery
2026

Cleft Lip and Palate: Prenatal Diagnosis, Genetic Testing, and Pregnancy Outcomes in a Tertiary Referral Center.

Acta medica portuguesa
2026

Surgeon 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 Association
2025

A Candidate Gene for Cerebro-Oculo-Nasal Syndrome: A Zinc-Finger Gene ZNF185 Located at Xq28.

Molecular syndromology
2025

Prevalence 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 Association
2025

Oral 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 health
2025

Prediction 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 Association
2025

A 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 surgery
2026

Smartphone 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 Association
2025

Associations Between Dermatoglyphic Patterns and Oral Diseases in Children: A Systematic Review and Meta-Analysis.

Cureus
2026

Palatal subunits analysis in unilateral cleft lip and palate compared to controls: A comparative cohort study.

Journal of plastic, reconstructive &amp; aesthetic surgery : JPRAS
2025

Bilateral Palatal Synechiae With Cleft Palate: A Rare Entity.

The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
2026

Advancements in Pathogenic Genes and Biomarkers for Non-syndromic Cleft Lip With or Without Cleft Palate Via Multiomics.

International dental journal
2025

De Novo Missense Variant in TP63 Gene: Insights on Clinical and Molecular Investigations.

The journal of gene medicine
2025

Aesthetics Are in the Eye of the Beholder: Evaluation of the Nasolabial Appearance After Primary Cleft Lip Repair.

Journal of clinical medicine
2025

Prerepair 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 Association
2025

Management 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 Association
2025

Mandibular 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 Association
2025

Cleft@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 open
2025

Pharyngeal Airway Dilation After Trans-Sutural Distraction Osteogenesis (TSDO) in Adolescent Cleft Lip and Palate (CLP) Patients With Midfacial Hypoplasia.

The Journal of craniofacial surgery
2026

An Uncommon Case of Hypophosphataemia-Non-Lethal Raine Syndrome With Novel FAM20C Variant: Expanding the Phenotypic Spectrum.

American journal of medical genetics. Part A
2026

Polymorphisms in congenital heart disease and extracardiac disorders.

Clinica chimica acta; international journal of clinical chemistry
2025

Haploinsufficiency of GRHL2 is associated with orofacial clefting in humans.

Human molecular genetics
2025

Faltering weight in infants with cleft lip and palate.

Journal of plastic, reconstructive &amp; aesthetic surgery : JPRAS
2025

Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome in monozygotic twins with a novel tumor protein p63 gene pathogenic variant.

JAAD case reports
2025

Ectrodactyly, Cleft Lip/Palate, and Urinary Anomalies With a Tumor Protein p63 (TP63) Mutation: A Case Report and Literature Review.

Cureus
2025

Prevalence 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 Association
2025

Prenatal diagnosis of 15q13.3 deletion and duplication syndrome: what do we tell the prospective parents?

Archives of gynecology and obstetrics
2025

The 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 Association
2025

Oxidative stress-mediated apoptosis via the SLC23A2-ascorbic acid interaction contributes to cleft lip development.

Frontiers in pediatrics
2026

Psychological, Medical and Educational Experiences of Adolescents With Orofacial Clefts in South Australia.

International journal of paediatric dentistry
2025

A 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 Association
2025

Is 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 Association
2025

Syndromes and Genetic Basis of Clefting.

Facial plastic surgery clinics of North America
2025

Effects of Food Preferences and Supplement Intake During Pregnancy on the Cleft Lip and Palate Incidence: The Japan Environment and Children's Study.

Nutrients
2025

Natural conception complicated by spontaneous ovarian hyperstimulation syndrome in the setting of severe primary hypothyroidism: A case series.

Medicine
2025

Quality 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 surgery
2026

Nasal Glioma in a Newborn With Suspected Pai Syndrome: Surgical and Diagnostic Insights.

The Journal of craniofacial surgery
2025

Genetic heterogeneity and homogeneity among orofacial cleft subtypes: genome-wide association studies in the cleft collective.

Human molecular genetics
2026

Comparative Analysis of Maxillary Sinus Volume in Patients With Cleft Lip and Palate Versus Class III Malocclusion Patients Using CBCT.

Orthodontics &amp; craniofacial research
2025

Presurgical 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 dentistry
2025

Mature Cleft Rhinoplasty: Morphologic Outcomes of Septal Cartilage Grafting.

The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
2025

Three-dimensional longitudinal assessment of nasal development with and without Nasoalveolar molding therapy in cleft lip and palate patients.

Clinical oral investigations
2026

Identification of Novel and Rare Gene Variants in Cleft Lip/Palate Patients From Kuwaiti Consanguineous Families by Exome Sequencing.

American journal of medical genetics. Part A
2025

Management of Severe Maxillary Atrophy in a Patient With Hay-Wells Syndrome.

The Journal of craniofacial surgery
2025

Anxiety 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 Association
2025

Exploring prenatal risk factors associated with congenital anomalies among newborns in national referral hospital, Indonesia.

The Medical journal of Malaysia
2026

WNT4 deficiency impacts heart, diaphragm, and palate development: Insights from human genetics, machine learning, and mouse models.

Developmental biology
2025

Causal Links Between Psychiatric Disorders, Sleep Apnea, and Oral and Maxillofacial Diseases Modules: A Mendelian Randomization Study.

The Journal of craniofacial surgery
2025

A Scoping Review of Socioeconomic Factors in Orofacial Cleft Research.

The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
2025

Comparative 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 Surgeons
2025

Palate-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 Surgery
2025

Trends in orofacial cleft prevalence and the effect of prenatal detection on pregnancy outcomes in Northern Netherlands.

Annals of epidemiology
2025

Nevoid 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 Association
2025

Influence 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 Association
2025

A Novel TP63 Missense Mutation in the Sumoylation Motif Causes Isolated Split-Hand/Foot Malformation 4: A Pedigree Report and Literature Review.

Molecular genetics &amp; genomic medicine
2025

A 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 anomalies
2025

Cancer Risk and Genetic Associations in Individuals With Cleft Lip and Palate and Their Families: A Narrative Review.

Birth defects research
2025

A Case of CHARGE Syndrome with a Novel Intronic Variant in the CHD7 Gene.

Journal of clinical research in pediatric endocrinology
2025

Support Needs of Parents of Children With Congenital Anomalies Across Europe: A EUROlinkCAT Survey.

Child: care, health and development
2025

[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
2025

[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 stomatology
2025

Rare variants in PRKCI cause Van der Woude syndrome and other features of peridermopathy.

American journal of human genetics
2026

Cleft 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 Dentistry
2025

Gene-by-Environment Interactions Involving Maternal Exposures with Orofacial Cleft Risk in Filipinos.

Genes
2025

"Airway-First, Heart-Early" Strategy: Managing Neonatal Dextro-Transposition of the Great Arteries in Pierre Robin Sequence.

Cureus
2025

Association of VAX1, MAFB, WNT3 with Non-Syndromic Cleft Lip with or without Cleft Palate in a Japanese Population.

Genes
2025

Gene-Sex Interaction in Non-Syndromic Orofacial Cleft Subtypes: A Case-Control Study Among the Vietnamese Population.

Genes
2025

Etiology of Cleft Lip and/or Cleft Palate in Southeastern Poland Based on Current Observational Study.

Journal of clinical medicine
2025

Evaluation of dental and skeletal age among unilateral cleft lip and palate patients in an eastern Indian population.

The Journal of forensic odonto-stomatology
2025

Single-cell transcriptomics reveal oxidative phosphorylation and oxidative stress in the superior temporal plane of non-syndromic cleft lip and palate fetuses.

Life sciences
2025

Attention Skills in Children With Nonsyndromic Cleft Lip and Palate.

The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
2026

Management of Middle Third Hypoplasia Using Rigid External Device: Long-Term Analysis of Results and Report of Complications.

The Journal of craniofacial surgery
2025

A 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-mutawassit
2025

Autism 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 Association
2025

Management of Congenital Palatal Fistula Associated With Wiskott-Aldrich Syndrome.

Cureus
2025

Genetic testing for oral clefts: reflections based on a single Brazilian public genetics service.

Orphanet journal of rare diseases
2025

Airway Management in Children Undergoing Cleft Lip or Cleft Palate Surgery: An 8-Year Retrospective Analysis of 274 Cases.

Paediatric anaesthesia
2025

All-trans Retinoic Acid regulates cellular senescence of mouse embryonic palatal mesenchyme (MEPM) cells in developing cleft palates.

Reproductive toxicology (Elmsford, N.Y.)
2025

Comparison of secondary surgery before and after centralisation of cleft services in the UK: a whole-island cross-sectional analysis.

BMJ open
2026

Prenatal Diagnosis of Hartsfield Syndrome in the Fetus With Isolated Ectrodactyly Caused by a Novel Variant in FGFR1.

American journal of medical genetics. Part A
2026

MAX-Related Disorder: Expanding the Phenotype of the Recurrent p.Arg60Gln Variant.

American journal of medical genetics. Part A
2025

Alveolar cleft repair: A 30-year follow-up.

Journal of plastic, reconstructive &amp; aesthetic surgery : JPRAS
2025

Multidisciplinary Airway Management and Postoperative Planning in a Pediatric Patient With Unrepaired Treacher-Collins Syndrome: A Case Report.

Cureus
2025

Effects 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 &amp; craniofacial research
2025

Missense Variant Met119Val in ACTB in a Patient with Baraitser-Winter Syndrome Type 1 and Mild Intellectual Disability.

Molecular syndromology
2025

Prenatal genetic findings using karyotyping and chromosomal microarray analysis in the first-occurrence typical orofacial clefts.

Molecular biology reports
2025

Adverse 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 Association
2026

Epidemiologic Assessment and Quality of Life Impact of Sinonasal Disease in Cleft Lip and Palate.

The Laryngoscope
2025

Assessment of symmetry and parental satisfaction after use of customized nasal conformers in unilateral cleft lip repair: a randomized controlled clinical trial.

Head &amp; face medicine
2025

Genetic modulation of lncPSMB1 confers non-syndromic cleft lip with or without cleft palate susceptibility by promoting cell apoptosis.

Communications biology
2025

LncRNA FENDRR Inhibits Mitochondrial Apoptosis via TET2-Mediated DNA Demethylation of MFN1 in NSCPO.

Oral diseases
2025

Grisel'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 Association
2025

Long-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 Association
2025

Remote Online vs. Onsite Rating of GOSLON Yardstick Using Digital Models.

The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
2025

Identifying 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 Association
2025

Enhanced Sutural Protraction: An Innovative Orthopedic Protocol for Midfacial Advancement in Growing Patients.

The Journal of craniofacial surgery
2025

Galectin-10 Characterization in Cleft Lip Palate - Affected Palatal Tissue.

Acta medica Lituanica
2025

Cleft Lip Appearance Secondary to Ulcerating Hemangioma.

Cureus
2025

Functional Annotation of De Novo Variants Found Near GWAS Loci Associated With Cleft Lip With or Without Cleft Palate.

Birth defects research
2025

Perinatal Airway Risk for Individuals With Isolated Cleft Spectrum.

The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
2025

Exome 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 Association
2025

Multimodality Craniofacial Phenotyping of Congenital Facial Weakness Disorders.

The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
2025

Cri du Chat Syndrome and congenital dislocation of the hips and knees: case report.

Revista de la Facultad de Ciencias Medicas (Cordoba, Argentina)
2025

A Comparison of Speech Outcomes Among Patients With Syndromic Cleft Palate: A 20-year Review.

The Journal of craniofacial surgery
2025

Clarifying the Relationship Between Orbito-Zygomatic and Mandibular Dysmorphology in Treacher Collins Syndrome.

The Journal of craniofacial surgery
2025

Lower labial vermilion myomucosal flap for commissuroplasty of Tessier 7 transverse facial cleft.

International journal of pediatric otorhinolaryngology
2025

The relationship between maternal periodontitis and congenital cytomegalovirus: A hypothetical model and therapeutic implications.

Periodontology 2000
2025

Does 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 Association
2025

Questionnaire survey of patient families and dental school students regarding non-syndromic cleft lip and/or palate in the Federal Democratic Republic of Ethiopia.

Congenital anomalies
2025

Ankyloblepharon-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 sciences
2025

Exome Sequencing Reveals the Genetic Architecture of Non-syndromic Orofacial Clefts and Identifies BOC as a Novel Causal Gene.

Advanced science (Weinheim, Baden-Wurttemberg, Germany)
2025

Descriptive epidemiology of orofacial clefts in South Australia.

Journal of cranio-maxillo-facial surgery : official publication of the European Association for Cranio-Maxillo-Facial Surgery
2025

Role of MSX1 in the development of non-syndromic clefts in the sub-Himalayan region of India.

The British journal of oral &amp; maxillofacial surgery
2025

Novel susceptibility gene SLC23A2 functions via PI3K-AKT-mTOR pathway in etiology of non-syndromic cleft palate.

Journal of human genetics
2025

The 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
2025

Arhgap29 Deficiency Directly Leads to Systemic and Craniofacial Skeletal Abnormalities.

International journal of molecular sciences
2025

Intrafamilial Phenotypic Variability of the FGFR1 p.Cys277Tyr Variant: A Case Report and Review of the Literature.

Genes
2025

First-Trimester Morphological Evaluation of Fetuses and Medical Law Implications.

Diagnostics (Basel, Switzerland)
2025

Taurus Philtrum: A Newly Identified Phenomenon in Overfilled Syndrome.

Aesthetic plastic surgery
2025

Craniofacial 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 Dentistry
2025

A Novel p63 Sterile Alpha Motif Domain Variation Identified in a Boy With Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome.

The Journal of dermatology
2025

Speech Outcomes After Secondary Furlow Z-Plasty and Pharyngeal Flap Procedure.

The Journal of craniofacial surgery
2025

Midline defect with corpus callosum agenesis, vermian hypoplasia and median cleft lip palate.

Case reports in perinatal medicine
2025

How 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 Association
2025

The Functional Impact of the Noncoding SNP rs3741442 on Orofacial Clefting.

Journal of dental research
2025

Growth Parameters in Children with Non-syndromic Cleft Lip and Palate versus Healthy Controls: A Cohort Study from Riyadh, Saudi Arabia.

Saudi journal of medicine &amp; medical sciences
2025

[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 genetics
2025

A systematic review of congenital external ear anomalies and their associated factors.

Frontiers in pediatrics
2025

Prenatal Diagnosis and Clinical Phenotypic Heterogeneity of 22q11.2 Microdeletion Syndrome Based on a Single Center Retrospective Study.

Journal of clinical laboratory analysis
2024

Novel 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 medicine
2025

Four-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 orthodontics
2025

A Novel Advantage to Microtia Reconstruction Utilizing Ear Molding: A Case Report of Goldenhar Syndrome's Clinical Presentation and Surgical Reconstruction.

Cureus
2025

Hearing Loss in 5-Year-Old and 12-Year-Old Patients With a Cleft Palate and Evaluating Standardized Assessment Methods.

The Journal of craniofacial surgery
2025

Risk of Early Childhood Dental Caries Associated With Prolonged Breastfeeding: A Systematic Review and Meta-Analysis.

International journal of paediatric dentistry
2025

Prevalence 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 health
2025

The 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 Dentistry

Associações

Organizações que acompanham esta doença — pra ter apoio e orientação

Ainda não temos associações cadastradas para Síndrome de fenda lábio-palatina-malrotação intestinal-cardiopatia.

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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

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Doenças relacionadas

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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.

  1. Orofacial clefting in PHF6-related B&#xf6;rjeson-Forssman-Lehmann syndrome.
    BMJ case reports· 2026· PMID 41741118mais citado
  2. Quality of life in patients with craniofacial anomalies: personal experience and review of literature.
    Medicine and pharmacy reports· 2026· PMID 41878049mais citado
  3. Clinical and genetic basis of congenital gonadotropin deficiency.
    Human reproduction open· 2026· PMID 41873429mais citado
  4. The effects of anabolic-androgenic steroids administration on oral health in humans: a scoping review.
    The Journal of sports medicine and physical fitness· 2026· PMID 41859835mais citado
  5. Prenatal Fentanyl Exposure Association With Characteristic Neonatal Anomalies.
    Journal of addiction medicine· 2026· PMID 41856964mais citado
  6. Epidemiological characteristics and natural history of porphyria - a twenty-year population-based analysis in Taiwan.
    Orphanet J Rare Dis· 2025· PMID 41250106recente
  7. EMA approved orphan medicines since the implementation of the orphan legislation.
    Orphanet J Rare Dis· 2025· PMID 40457478recente
  8. Global variations in diagnostic methods and epidemiological estimates in Pompe disease: findings from a scoping review.
    Orphanet J Rare Dis· 2025· PMID 40329343recente
  9. Safety analysis of self-administered enzyme replacement therapy using data from the Fabry Outcome and Gaucher Outcome Surveys.
    Orphanet J Rare Dis· 2025· PMID 40155993recente
  10. Comprehensive Iranian guidelines for the diagnosis and management of maple syrup urine disease: an evidence- and consensus- based approach.
    Orphanet J Rare Dis· 2025· PMID 39773751recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:2001(Orphanet)
  2. OMIM OMIM:601165(OMIM)
  3. MONDO:0011008(MONDO)
  4. GARD:3430(GARD (NIH))
  5. Busca completa no PubMed(PubMed)
  6. 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

Compêndio · Raras BR

Síndrome de fenda lábio-palatina-malrotação intestinal-cardiopatia

ORPHA:2001 · MONDO:0011008
Prevalência
<1 / 1 000 000
Casos
5 casos conhecidos
Herança
Autosomal recessive
CID-10
Q87.8 · Outras síndromes com malformações congênitas especificadas, não classificadas em outra parte
Início
Neonatal
Prevalência
0.0 (Worldwide)
MedGen
UMLS
C1832666
Wikidata
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