Raras
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Síndrome de macrossomia-microftalmia-fenda palatina
ORPHA:2432CID-10 · Q87.0OMIM 248110DOENÇA RARA

A síndrome de macrossomia-microftalmia-fenda palatina é uma síndrome dismórfica/anomalias congênitas múltiplas rara, genética, caracterizada por macrossomia precoce, microftalmia grave bilateral e abdômen protuberante com hepatomegalia. Características adicionais relatadas incluem braquicefalia, fontanelas grandes, testa proeminente, nariz arrebitado e fenda palatina mediana. Períodos de apneia cianótica e infecções avassaladoras levam à morte nos primeiros 6 meses de vida. Não houve mais descrições na literatura desde 1989.

Mantido por Agente Raras·Colaborar como especialista →

Introdução

O que você precisa saber de cara

📋

A síndrome de macrossomia-microftalmia-fenda palatina é uma síndrome dismórfica/anomalias congênitas múltiplas rara, genética, caracterizada por macrossomia precoce, microftalmia grave bilateral e abdômen protuberante com hepatomegalia. Características adicionais relatadas incluem braquicefalia, fontanelas grandes, testa proeminente, nariz arrebitado e fenda palatina mediana. Períodos de apneia cianótica e infecções avassaladoras levam à morte nos primeiros 6 meses de vida. Não houve mais descrições na literatura desde 1989.

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
Antenatal
+ neonatal
🏥
SUS: Cobertura mínimaScore: 15%
CID-10: Q87.0
🇧🇷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

🫁
Pulmão
2 sintomas
😀
Face
2 sintomas
🫃
Digestivo
1 sintomas
👁️
Olhos
1 sintomas

+ 5 sintomas em outras categorias

Características mais comuns

90%prev.
Infecções respiratórias recorrentes
Muito frequente (99-80%)
90%prev.
Microftalmia
Muito frequente (99-80%)
90%prev.
Grande para a idade gestacional
Muito frequente (99-80%)
90%prev.
Hepatomegalia
Muito frequente (99-80%)
90%prev.
Anormalidade das fontanelas ou suturas cranianas
Muito frequente (99-80%)
90%prev.
Microcórnea
Muito frequente (99-80%)
11sintomas
Muito frequente (7)
Frequente (4)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 11 características clínicas mais associadas, ordenadas por frequência.

Infecções respiratórias recorrentesRecurrent respiratory infections
Muito frequente (99-80%)90%
MicroftalmiaMicrophthalmia
Muito frequente (99-80%)90%
Grande para a idade gestacionalLarge for gestational age
Muito frequente (99-80%)90%
HepatomegaliaHepatomegaly
Muito frequente (99-80%)90%
Anormalidade das fontanelas ou suturas cranianasAbnormality of the fontanelles or cranial sutures
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
Pico2026106 papers
Linha do tempo
2026Hoje · 2026
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 macrossomia-microftalmia-fenda palatina

🗺️

Selecione um estado ou use sua localização para ver resultados.

Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.

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

Timeline de publicações
0 papers (10 anos)
#1

Anaesthetic management of a paediatric patient with Goldenhar syndrome for oral rehabilitation and palatoplasty.

BMJ case reports2026 Mar 23

Goldenhar syndrome is a rare congenital condition characterised by craniofacial deformities and vertebral anomalies, which pose significant challenges for anaesthesiologists in airway management and ventilatory support. In this case report, we present a paediatric patient with Goldenhar syndrome for oral rehabilitation and palatoplasty, highlighting the importance of a thorough preoperative evaluation, airway planning and the application of lung protective ventilation strategies. The procedure was successfully done under general anaesthesia without intraoperative or postoperative complications. This case report emphasises the importance of individualised anaesthetic planning in patients with craniofacial and vertebral anomalies. The perioperative risks were significantly reduced by anticipating a potential difficult airway and tailoring ventilatory management.

#2

Toward Understanding the Role of miRNAs in Cleft Palate Only: Observations from Patient Tissues and In Vitro Assays.

International journal of molecular sciences2026 Feb 24

Cleft palate only (CPO) is a multifactorial craniofacial malformation with significant genetic and epigenetic contributions. Among these, microRNAs (miRNAs) have emerged as key regulators of palate development, although their alterations in CPO remain incompletely characterized. In this study, we performed a comprehensive miRNA expression analysis on palatal tissues from an Italian cohort of non-syndromic CPO patients, compared with a human embryonic palatal mesenchymal (HEPM) cell line. Using the NanoString® nCounter® platform for miRNA profiling, we identified significant deregulation of several miRNAs, notably the upregulation of miR-205-5p and miR-200c-3p and the downregulation of miR-125a-5p in CPO tissues. Based on these expression changes, a functional analysis was carried out to identify potential target genes. Validation in primary cell cultures derived from patient tissues confirmed these expression patterns. Functional analyses and target predictions implicated PAX9, a key transcription factor essential for palatogenesis, as a probable target of miR-205-5p, while miR-125a-5p was associated with the regulation of PRTG and PRSS35-genes involved in neural crest cell biology and extracellular matrix remodeling, respectively. Although modulation of certain predicted targets of miR-200c-3p was observed, in vitro inhibition experiments did not show significant changes in gene expression, highlighting the complexity of miRNA regulatory networks and the need for further studies to unravel these interactions. These findings identify miRNA alterations associated with CPO tissue and fibroblasts, highlighting novel candidate pathways for further mechanistic and therapeutic investigation.

#3

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. Oculo-auriculo-vertebral spectrum (OAVS) is a congenital disorder of craniofacial morphogenesis, first described by ophthalmologist Maurice Goldenhar in 1952, characterized by an association of ophthalmic, auricular, and facial features. Gorlin et al. subsequently added vertebral anomalies to the classification in 1963. The condition is also known as Goldenhar syndrome, facio-auriculo-vertebral syndrome, or Goldenhar-Gorlin syndrome. The term OAVS, originating from "oculoauriculovertebral dysplasia" as described by Cohen et al in 1989, reflects the phenotypic continuum and significant overlap among malformations of structures derived from the first and second branchial arches. OAVS affects the eyes, mouth (lips, tongue, and palate), ears, maxilla, and mandible. Multisystem involvement frequently includes the central nervous system, heart, kidneys, and skeletal system, distinguishing it from isolated hemifacial microsomia. Recent advances in genetics have identified multiple causative genes, transforming our understanding of this clinically heterogeneous condition. Typical phenotypes include microtia, facial asymmetry, and epibulbar dermoid or lipodermoid. The minimum diagnostic criteria proposed by Tasse et al include either isolated microtia or preauricular tags associated with hemifacial microsomia. The management of patients with OAVS requires an interprofessional approach due to the wide variety of abnormalities and varying severity of presentations. This review highlights current understanding of etiology, pathogenesis, clinical presentations, and evidence-based management options, with particular emphasis on ocular features.

#4

Clinical and genetic characterization of patients with Digeorge syndrome: a single-center, first report from Sudan.

BMC pediatrics2026 Feb 09

DiGeorge syndrome (DGS; OMIM #188400), also known as 22q11.2 deletion syndrome, is characterized by cardiac defects, abnormal facial features, thymic hypoplasia, cleft palate, and hypocalcemia. The syndrome is ranked as the second most common chromosomal change after Down’s syndrome, accounting for 1 in 2000 newborns. DGS syndrome is typically diagnosed through CGH and/or FISH analysis in developed countries. However, in low-resource healthcare settings, diagnosis often relies primarily on clinical manifestations due to limited access to genetic testing. The present study, the first of its kind, seeks to deepen the understanding of both the clinical and genetic aspects of DGS among Sudanese patients by employing FISH analysis as a confirmatory test. Between 2020 and 2023, 19 patients with DGS as a provisional diagnosis were referred to the Elite Center for Genetic Services for genetic testing and counseling. Cytogenetics and chromosomal analysis were performed following standard protocols, complemented by chromosomal FISH analysis using locus-specific TUPLE1 and α-satellite DNA probes. Of the 19 patients, 9 (47.4%) were male, and 10 (52.6%) were female, with ages ranging from 2 months to 3 years, and a mean of 11 ± 8.6 months. The most common presentations were CHD in 13 (68.4%), dysmorphic features in 12 (63.2%), and recurrent respiratory tract infections in 9 (47.4%). The least common presenting complaint was intellectual disability in only 2 (10.5%) patients. The echocardiogram revealed isolated heart defects in 9 (47.4%) patients, and only 4 (21.1%) had combined cardiac anomalies. Laboratory tests showed hypocalcemia in all four neonatal patients (21.1%) with a previous history of neonatal convulsions. Conventional cytogenetic analyses were suggestive but non-conclusive {46,XY,?del(22) and 46,XX,?del(22)} for DGS. The complementary FISH analysis confirmed the diagnosis by detecting the microdeletion in the DGCR of chromosome 22. Our study highlights the late presentation of DGS for genetic diagnoses. This may be due to limited access to genetic testing, late referrals from treating physicians, or the high cost of the tests. A key area for future research is the environmental factors, such as skin bleaching, that may contribute to DGS in Sudan and other African populations.

#5

Genetic Landscape of Robin Sequence: A Systematic Review.

Clinical genetics2026 Feb

Robin sequence (RS) is a congenital condition characterized by micrognathia, glossoptosis, and upper airway obstruction, often occurring with cleft palate and syndromic conditions. The genetic basis of RS is heterogeneous, including monogenic variants and chromosomal rearrangements. This systematic review synthesizes the current genetic landscape of RS, analyzing data from 107 studies that employed various genetic testing methods, including chromosomal microarray (CMA), targeted sequencing, and whole exome sequencing (WES). A distinction is made between genetic variants identified in isolated versus non-isolated RS. Pathogenic variants in genes as SOX9, SNRPB, SATB2, TGDS, RBM10, COL11A1, and COL2A1 are frequently identified, many of which are linked to non-isolated RS. The most common chromosomal aberrations are deletions of 22q11.2 and 18q. Up-to-date genetic testing is essential to enable accurate diagnosis and personalized clinical care. With the growing use of whole genome sequencing (WGS) in clinical practice, the need for phenotype-driven interpretation tools is increasing. Some platforms can prioritize gene relevance based on Human Phenotype Ontology (HPO) terms. Documenting both known and novel RS-associated genes is therefore crucial to fully realize the diagnostic potential of WGS and support evidence-based clinical decision-making.

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Clinical and genetic characterization of patients with Digeorge syndrome: a single-center, first report from Sudan.

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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

Surgical Outcomes of Submucous Cleft Palate Using Intravelar Veloplasty with a Buccinator Musculomucosal Flap: A Case Series.

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

Navigating Airway Obstacles: Effective Anesthesia Strategies for Severe Robinson Sequence in a 3 year old.

The Medical journal of Malaysia
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

Neuroendocrine Axis Investigation in Patients with Arhinia, Hemiarhinia and Associated Malformations.

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

Role of Sclerotherapy in Treating Oral Vascular Malformations in Hereditary Hemorrhagic Telangiectasia.

Otolaryngology--head and neck surgery : official journal of American Academy of Otolaryngology-Head and Neck 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

Silver-Russell syndrome secondary to rare (epi)genotypes exhibits phenotypic heterogeneity challenging clinical diagnosis.

Clinical epigenetics
2026

Surgical treatment of 89 patients with craniofacial microsomia in a craniofacial national reference centre in Finland.

Journal of cranio-maxillo-facial surgery : official publication of the European Association for Cranio-Maxillo-Facial 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
2026

Congenital palatal fistula associated with submucous cleft palate: Surgical outcomes and insights from a case series of 27 patients.

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

Evaluating the relationship between oropharyngeal airway volume and risk of sleep apnea: A cone-beam computed tomography study.

Dental research journal
2025

Rapid maxillary expansion and its impact on sleep apnea in children aged 5 to 8 years: a retrospective study.

Dental press journal of orthodontics
2025

Children and adolescents with DiGeorge syndrome are short in early infancy but develop excess weight in adolescence: a retrospective study.

Revista paulista de pediatria : orgao oficial da Sociedade de Pediatria de Sao Paulo
2025

Outcome of orthodontic airway plate in improving airway among children with Pierre Robin Sequence: a systematic review.

The Journal of laryngology and otology
2025

Heterogeneity of Orodental Features in a Family with Noonan Syndrome.

International journal of molecular sciences
2025

Secondary Synostosis After Spring-Mediated Cranioplasty for Sagittal Synostosis.

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

Clinical and Radiographic Evaluation of Molar Root-Incisor Malformation (MRIM): A Case Series.

Case reports in dentistry
2025

Dental and Craniofacial Findings in Early Childhood in Oral-Facial-Digital Syndrome Type 1: A Case Report.

Case reports in dentistry
2025

DISE Findings Across Comorbidity Groups and Surgical Status in Pediatric Sleep-Disordered Breathing.

The Laryngoscope
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

Speech Results in 10-Year-Old Children With Isolated Cleft Palate.

The Journal of craniofacial surgery
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

Prevalence of Sleep-related Breathing Disorders in Children and Its Correlation with Oral Health Status Using FAIREST-6: Cross-sectional Study.

International journal of clinical pediatric dentistry
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
2026

Otolaryngologic disease in 22q11.2 deletion syndrome: spectrum, co-occurrence, and outcomes in a contemporary pediatric cohort.

European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery
2026

The role of Single-sited combined nasal and uvulopalatopharyngoplasty surgery in obstructive sleep apnea syndrome: integrating anatomy-based selection with advanced statistical outcomes.

European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery
2025

Midface Hypoplasia and Cranial Base Morphology in Syndromic Craniosynostosis: A Comparative Analysis Study Using a Predictive Regression Model.

Journal of visualized experiments : JoVE
2025

A rare case of de novo 20p12.3 microdeletion syndrome in a nine-year-old female: case report and literature review.

Frontiers in genetics
2026

Craniofacial surgery needs in the Moebius syndrome population.

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

Paraneoplastic Dermatomyositis Due to Gallbladder Carcinoma.

Cureus
2025

Catch-Up Growth in Syndromic Robin Sequence: A Systematic Review.

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

Intraoral Synechiae or Bands in Cleft Palate: Systematic Review With a Proposed Classification.

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

FAM20C and FAM20A in normal and ectopic mineralization: A focus on oro-renal syndromes.

Matrix biology : journal of the International Society for Matrix Biology
2025

A rare variant of USP9X associated with female-restricted X-linked syndromic intellectual disability.

Molecular biology reports
2025

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

Journal of clinical medicine
2026

Caregiver-Reported Barriers and Predictors of Appointment Attendance in Pediatric Craniofacial Team Care.

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

Airway Changes After Sleep Apnea Surgery Using Drug-Induced Sedation Endoscopy: A Systematic Review and Meta-analysis.

Otolaryngology--head and neck surgery : official journal of American Academy of Otolaryngology-Head and Neck Surgery
2025

Two Chinese patients with Basilicata-Akhtar syndrome caused by novel MSL3 variants: a case report and literature review.

Translational pediatrics
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
2026

Folded-flap palatoplasty and traditional staphylectomy yield similar postoperative soft palate geometry in French Bulldogs undergoing airway surgery.

Journal of the American Veterinary Medical Association
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

Barriers to Surgical Care in Craniofacial Scleroderma (Parry-Romberg Syndrome).

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

Expanding Clinical and Genetic Landscape of SATB2-Associated Syndrome.

Genes
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
2026

Sporadic progressive ataxia and palatal tremor syndrome.

Journal of neuroradiology = Journal de neuroradiologie
2025

A Unique Case of Pure Bilateral Lambdoid Craniosynostosis and Progression to Mercedes-Benz Syndrome Following Spring Cranioplasty.

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

Dental Anomalies: Prevalence, Patterns of Association and Relationship With Dental Age.

International dental journal
2026

Tridimensional analysis of the normal upper airways in non-dentofacial deformity patients.

Morphologie : bulletin de l'Association des anatomistes
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

Retrospective Analysis of 1093 Non-Syndromic Supernumerary Teeth From 782 Patients in Northwest China: Clinical, Radiographic and Epidemiological Insights.

International dental journal
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
2025

Auditory Outcomes in Patients Undergoing Orthognathic Surgery: An Analysis of Middle Ear Disease.

Otolaryngology--head and neck surgery : official journal of American Academy of Otolaryngology-Head and Neck Surgery
2025

Craniofacial Surgery in Children With Down Syndrome: A 6-decade Scoping Review.

Plastic and reconstructive surgery. Global open
2026

Genetic Landscape of Robin Sequence: A Systematic Review.

Clinical genetics
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

[Thermoregulation as a factor in the pathophysiology of the brachycephalic upper airway syndrome in dogs].

Schweizer Archiv fur Tierheilkunde
2025

Modified uvulopalatopharyngoplasty: "8" suture abduction-suspension of the palatopharyngeal muscle.

American journal of otolaryngology
2025

Distinguishing syndromic and nonsyndromic cleft palate through analysis of protein-altering de novo variants in 818 trios.

American journal of human genetics
2026

Three New Cases of Autosomal Recessive Stickler Syndrome due to Biallelic Variants in the LOXL3 Gene.

Clinical genetics
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

VACTERL Association and Unilateral Lambdoid Craniosynostosis.

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

Mastering the Art of Symmetry: Long-Term Outcomes and Management in Patients with Tessier No. 7 Cleft.

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

Choroidal vascular and oropharyngeal morphological indicators in predicting CPAP treatment efficacy in severe OSAS patients: a prospective cohort study.

Head &amp; face medicine

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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. Anaesthetic management of a paediatric patient with Goldenhar syndrome for oral rehabilitation and palatoplasty.
    BMJ case reports· 2026· PMID 41871901mais citado
  2. Toward Understanding the Role of miRNAs in Cleft Palate Only: Observations from Patient Tissues and In Vitro Assays.
    International journal of molecular sciences· 2026· PMID 41828317mais citado
  3. Orofacial clefting in PHF6-related B&#xf6;rjeson-Forssman-Lehmann syndrome.
    BMJ case reports· 2026· PMID 41741118mais citado
  4. Clinical and genetic characterization of patients with Digeorge syndrome: a single-center, first report from Sudan.
    BMC pediatrics· 2026· PMID 41664044mais citado
  5. Genetic Landscape of Robin Sequence: A Systematic Review.
    Clinical genetics· 2026· PMID 41077824mais citado
  6. Prenatal diagnosis of Blepharo-Cheilo-Dontic syndrome: a case report.
    Arch Gynecol Obstet· 2026· PMID 41563506recente
  7. Midface Hypoplasia and Cranial Base Morphology in Syndromic Craniosynostosis: A Comparative Analysis Study Using a Predictive Regression Model.
    J Vis Exp· 2025· PMID 41284682recente
  8. A rare variant of USP9X associated with female-restricted X-linked syndromic intellectual disability.
    Mol Biol Rep· 2025· PMID 41240171recente
  9. Syndromes and Genetic Basis of Clefting.
    Facial Plast Surg Clin North Am· 2025· PMID 41101800recente
  10. Distinguishing syndromic and nonsyndromic cleft palate through analysis of protein-altering de novo variants in 818 trios.
    Am J Hum Genet· 2025· PMID 41056948recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:2432(Orphanet)
  2. OMIM OMIM:248110(OMIM)
  3. MONDO:0009547(MONDO)
  4. GARD:177(GARD (NIH))
  5. Busca completa no PubMed(PubMed)
  6. Q29014923(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 macrossomia-microftalmia-fenda palatina

ORPHA:2432 · MONDO:0009547
Prevalência
<1 / 1 000 000
Casos
5 casos conhecidos
CID-10
Q87.0 · Síndromes com malformações congênitas afetando predominantemente o aspecto da face
Início
Antenatal, Neonatal
Prevalência
0.0 (Worldwide)
MedGen
UMLS
C1855467
Wikidata
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