Raras
Buscar doenças, sintomas, genes...
Síndrome de microbraquicefalia-ptose-fenda labial
ORPHA:2511CID-10 · Q87.8OMIM 268850DOENÇA RARA

A Síndrome da Cabeça Pequena e Achatada, Pálpebras Caídas e Lábio Leporino é caracterizada pela combinação de deficiência intelectual, uma cabeça pequena e achatada, olhos muito próximos, pálpebras caídas, um rosto fino e alongado, lábio leporino, e alterações nas vértebras da região lombar, no osso sacro e na bacia. Foi descrita em duas irmãs brasileiras. Aparentemente, é uma condição genética recessiva, não ligada aos cromossomos sexuais. Isso significa que, para alguém ter a síndrome, precisa herdar uma cópia do gene alterado de cada um dos pais (que geralmente não manifestam a doença).

Mantido por Agente Raras·Colaborar como especialista →

Introdução

O que você precisa saber de cara

📋

A Síndrome da Cabeça Pequena e Achatada, Pálpebras Caídas e Lábio Leporino é caracterizada pela combinação de deficiência intelectual, uma cabeça pequena e achatada, olhos muito próximos, pálpebras caídas, um rosto fino e alongado, lábio leporino, e alterações nas vértebras da região lombar, no osso sacro e na bacia. Foi descrita em duas irmãs brasileiras. Aparentemente, é uma condição genética recessiva, não ligada aos cromossomos sexuais. Isso significa que, para alguém ter a síndrome, precisa herdar uma cópia do gene alterado de cada um dos pais (que geralmente não manifestam a doença).

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
2
pacientes catalogados
Início
Infancy
+ 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
Você se identifica com essa condição?
O Raras está aqui pra te apoiar — com ou sem diagnóstico

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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

🦴
Ossos e articulações
13 sintomas
😀
Face
9 sintomas
🧠
Neurológico
7 sintomas
👁️
Olhos
6 sintomas
👂
Ouvidos
4 sintomas

+ 17 sintomas em outras categorias

Características mais comuns

90%prev.
Palma curta
Muito frequente (99-80%)
90%prev.
Fissura labial unilateral
Muito frequente (99-80%)
90%prev.
Cristas supraorbitais subdesenvolvidas
Muito frequente (99-80%)
90%prev.
Morfologia anormal do osso zigomático
Muito frequente (99-80%)
90%prev.
Ptose
Muito frequente (99-80%)
90%prev.
Escoliose
Muito frequente (99-80%)
56sintomas
Muito frequente (34)
Frequente (2)
Sem dados (20)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 56 características clínicas mais associadas, ordenadas por frequência.

Palma curtaShort palm
Muito frequente (99-80%)90%
Fissura labial unilateralUnilateral cleft lip
Muito frequente (99-80%)90%
Cristas supraorbitais subdesenvolvidasUnderdeveloped supraorbital ridges
Muito frequente (99-80%)90%
Morfologia anormal do osso zigomáticoAbnormal zygomatic bone morphology
Muito frequente (99-80%)90%
PtosePtosis
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
Pico2025103 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 microbraquicefalia-ptose-fenda labial

🗺️

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

MASLD as a systemic metabolic disease: expanding the scope of cardiovascular-kidney-metabolic (CKM) syndrome.

Science China. Life sciences2026 Mar 16

Metabolic dysfunction-associated steatotic liver disease (MASLD) is a highly prevalent and progressive liver condition that is increasingly recognized for its systemic cardiometabolic impacts. MASLD increases the risk of cardiovascular and renal complications mainly through shared mechanisms, such as insulin resistance, low-grade inflammation, oxidative stress, atherogenic dyslipidemia, and a procoagulant state. Although these interrelated processes drive multisystem damage, MASLD remains often underdiagnosed in cardiology and nephrology settings and is excluded from the recently proposed framework for cardiovascular-kidney-metabolic (CKM) syndrome. Increasing recognition of the bidirectional interconnections between MASLD, cardiovascular disease, and chronic kidney disease suggests the need for an expanded cardiovascular-kidney-liver-metabolic (CKLM) model. Integrating MASLD into this framework supports earlier identification using non-invasive screening tools, encourages coordinated multidisciplinary care, and highlights the potential of pharmacotherapies, such as glucagon-like peptide-1 receptor agonists and sodium-glucose co-transporter 2 inhibitors, with cross-organ benefits. This review aims to reframe MASLD within this broader multisystem context and explore the implications of its integration into an expanded CKLM framework, with the goal of improving clinical outcomes and addressing multimorbidity.

#2

Village Doctor-Led Telemedicine for Rural Patients Aged 75 Years and Older With AF: A Prespecified Secondary Analysis of the MIRACLE-AF Trial.

JAMA network open2026 Mar 02

Delivering integrated atrial fibrillation (AF) care to rural patients remains challenging. Patients aged 75 years and older in rural areas represent a particularly at-risk subgroup, and effective and scalable strategies to optimize AF care in this population are urgently needed. To evaluate the effectiveness of a village doctor-led, telemedicine-supported integrated care model in rural patients aged 75 years and older with AF. This was a prespecified subgroup analysis of the Novel Model of Integrated Care of Older Patients With Atrial Fibrillation in Rural China (MIRACLE-AF) cluster randomized clinical trial, which was conducted across 30 village clinics in Jiangdu County, Jiangsu Province, China, from December 2020 to May 2024. Patients with AF aged 65 years and older and residing in rural villages under study were eligible for the MIRACLE-AF trial. In this prespecified subgroup study, patients aged 75 years and older were analyzed. Additional age cutoffs (≥70, ≥75, and ≥80 years) were applied to assess the consistency of intervention benefits across age groups. Village doctor-led, telemedicine-supported integrated AF care or usual care. A composite of cardiovascular death, ischemic or hemorrhagic stroke, hospitalization for worsening heart failure or acute coronary syndrome, and emergency visits for AF. Among 1039 patients included in the primary analysis of the MIRACLE-AF trial (mean [SD] age, 75.8 [5.7] years; 460 women [44.3%]), 589 patients with AF aged 75 years or older (median [IQR] age, 79 [77-82] years; 273 women [46.3%]) were included in this analysis. Among them, 297 patients received the MIRACLE-AF intervention and 292 patients received usual care. Over 36 months of follow-up, the MIRACLE-AF intervention resulted in a significantly lower risk of the primary composite outcome compared with usual care (7.4%; 95% CI, 5.6%-9.2% vs 11.3%; 95% CI, 8.5%-14.1% per year; rate difference, -3.93 percentage points; 95% CI, -7.41 to -0.44 percentage points; P = .02; adjusted hazard ratio, 0.70; 95% CI, 0.49 to 0.98; P = .04). In this prespecified subgroup analysis of the MIRACLE-AF trial, a novel care model significantly improved outcomes in patients with AF aged 75 years or older in rural settings. ClinicalTrials.gov Identifier: NCT04622514.

#3

Antiphospholipid antibodies and cardiovascular thrombosis.

Nature reviews. Cardiology2026 Mar 10

Antiphospholipid antibodies (aPL) are directed against phospholipids and phospholipid-binding proteins. Laboratory assays used to detect aPL include serological tests for aPL against β2-glycoprotein 1, cardiolipin and other molecules, as well as functional assays for lupus anticoagulant. The presence of aPL can lead to endothelial dysfunction or a hypercoagulable state through prothrombotic and antifibrinolytic mechanisms. These processes, often in conjunction with a 'second hit', such as trauma, surgery, or other causes of hypercoagulability or stasis, can lead to venous or arterial thrombosis. The thrombotic risk associated with aPL is best recognized in thrombotic antiphospholipid syndrome, characterized by a persistently positive test for lupus anticoagulant or seropositivity for aPL associated with venous, arterial or microvascular thrombosis. However, aPL seropositivity and its clinical effect on thrombotic events have been increasingly recognized in a broader group of individuals who do not meet traditional research criteria for thrombotic antiphospholipid syndrome. In this Review, we provide an overview of the evidence related to aPL seropositivity in individuals with or without previous thrombosis and the clinical relevance of aPL seropositivity in predicting the risk of thrombotic cardiovascular events. We discuss potential management strategies and identify key knowledge gaps that warrant further research.

#4

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.

#5

Cardiovascular-kidney-metabolic interplay in patients with atrial fibrillation receiving direct oral anticoagulants.

Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology2026 Mar 10

Cardiovascular-kidney-metabolic (CKM) syndrome reflects the interplay of cardiovascular disease (CVD), chronic kidney disease (CKD), and metabolic risk factors. We examined whether the number, components, and complexity of CKM domains influence outcomes and years of life lost (YLL) per death in patients with non-valvular atrial fibrillation (AF) receiving direct oral anticoagulants (DOACs). We included 17 378 AF patients (mean age 76.1 ± 10.7 years; 40.9% women) on DOACs from a multicentre Taiwanese database (2012-21). Patients were followed until outcomes, death, or study end. Overall, 18.1, 35.1, 32.2, and 14.6% of patients had 0, 1, 2, and 3 CKM domains. Women more often exhibited kidney, metabolic, or combined domains. Clinical risks rose stepwise with domain number; patients with three domains had the highest risks of ischaemic stroke/systemic embolic event/acute coronary syndrome (IS/SEE/ACS) [adjusted hazard ratio (aHR) 1.60, 95% confidence interval (CI) 1.25-2.05], major bleeding (aHR 2.60, 95% CI 2.00-3.38), heart failure hospitalization (aHR 2.83, 95% CI 2.38-3.37), all-cause mortality (aHR 1.80, 95% CI 1.58-2.06), acute kidney injury (aHR 3.42, 95% CI 2.76-4.25), and major adverse renal events (aHR 20.84, 95% CI 14.14-30.71; all P < 0.001). Domain-specific analysis showed kidney involvement conferred the strongest risks (except IS/SEE/ACS), while cardiovascular and metabolic domains were more associated with IS/SEE/ACS. YLL rose with more CKM domains, with females associated with greater reductions, especially in cardiovascular (-10.29 vs. -4.67) and metabolic (-4.98 vs. -0.80) domains (P < 0.001). Increasing CKM burden was associated with progressively worse prognosis and shorter life expectancy in AF patients on DOACs, with more pronounced impacts in women.

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

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Clinical and genetic basis of congenital gonadotropin deficiency.

Human reproduction open
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Prenatal Fentanyl Exposure Association With Characteristic Neonatal Anomalies.

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MASLD as a systemic metabolic disease: expanding the scope of cardiovascular-kidney-metabolic (CKM) syndrome.

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

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Brain-Targeted RVG-Liposomal Melatonin Ameliorates Manganese Neurotoxicity by Enhancing Neurogenesis and Modulating Systemic Amino Acid Profiles.

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Utility of the Early Sjögren Antibody Panel as a Diagnostic Marker for Sensory Neuropathy.

Muscle &amp; nerve
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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

All-cause mortality and early cardiovascular complications in relation to lesion location and stroke subtype in haemorrhagic and ischaemic stroke: the Perugia stroke registry.

European journal of internal medicine
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The e ffec t of the nose fo rm o n lin ear and a ngular lip po sitio n in C l as s II patients.

JPMA. The Journal of the Pakistan Medical Association
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Air, Noise, and Light Pollution and Thromboembolic Cardiovascular Complications: A TH Scientific Statement.

Thrombosis and haemostasis
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Facial-palate correlation in unilateral cleft lip and palate: A data-driven 3D analysis.

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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

Village Doctor-Led Telemedicine for Rural Patients Aged 75 Years and Older With AF: A Prespecified Secondary Analysis of the MIRACLE-AF Trial.

JAMA network open
2026

Antiphospholipid antibodies and cardiovascular thrombosis.

Nature reviews. Cardiology
2026

Feasibility of Imaging the Uvula at the Midtrimester Anomaly Ultrasound: A Retrospective Study.

Journal of ultrasound in medicine : official journal of the American Institute of Ultrasound in Medicine
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

Bilateral Eyelid Agenesis With Multiple Congenital Ocular Anomalies in an Australian Labradoodle Puppy: Case Report and Surgical Management.

Veterinary ophthalmology
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

Long-term prognosis in Takotsubo syndrome compared to heart failure: observations from a global federated research network.

ESC heart failure
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

Tongue strength and endurance in relation to oral cavity morphology among children with Down syndrome in the permanent dentition period.

Journal of the Indian Society of Pedodontics and Preventive Dentistry
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

Sex differences in cardiovascular-kidney-metabolic syndrome and new onset cardiovascular outcomes.

Metabolism: clinical and experimental
2026

H3K18 Lactylation in Salivary Gland Epithelial Cells Regulates Autophagy and Is Associated With the Progression of Sjögren Syndrome.

Laboratory investigation; a journal of technical methods and pathology
2026

Comparative disproportionality signals for methotrexate monotherapy versus methotrexate combined with hydroxychloroquine, leflunomide, or sulfasalazine in rheumatoid arthritis: newly highlighted signals evaluated using drug information safety profiles.

Naunyn-Schmiedeberg's archives of pharmacology
2026

Intelligent nanoliposome ameliorate chronic intermittent hypoxia-mediated neuronal injury via a dual regulation microglial inflammation strategy.

Materials today. Bio
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

Cardiovascular-kidney-metabolic interplay in patients with atrial fibrillation receiving direct oral anticoagulants.

Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology
2026

Localized ST Elevations and PR Depressions in Systemic Lupus Erythematosus Pericarditis: An Unusual Case Presentation.

Case reports in medicine
2026

Clinical features and management of 16q24.3 microdeletion KBG syndrome: literature review.

Frontiers in pediatrics
2026

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

American journal of medical genetics. Part A
2026

Sjogren's Disease-Aspects of Clinical Disease Beyond Dry Eyes/Mouth.

Journal of clinical medicine
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

Direct oral anticoagulants versus Vitamin K antagonist in kidney transplant recipients with atrial fibrillation: A study from a global federated research network.

European journal of internal medicine
2026

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

Journal of stomatology, oral and maxillofacial surgery
2026

Quercetagitrin targets EIF3D to activate NCOA4-mediated ferritinophagy-dependent ferroptosis for the treatment of non-small cell lung cancer.

Phytomedicine : international journal of phytotherapy and phytopharmacology
2026

Liposomes as carriers for garlic oil delivery to increase anti-inflammatory and antioxidant activities in mice with ALI.

Experimental biology and medicine (Maywood, N.J.)
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

An examination of child outcomes and predictors of severity when prenatal alcohol exposure is frequent and heavy.

Alcohol, clinical &amp; experimental research
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

A novel NSD2 pathogenic variant in a Chinese patient with Rauch-Steindl syndrome: a case report.

BMC neurology
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
2026

Growth factor analysis in children with non-syndromic orofacial clefts: a systematic review.

BMC oral health
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
2026

Effect of Mitochondria-Derived Methylmalonic Acid on Progress and Mortality Risk in US Adults With Cardiovascular-Kidney-Metabolic Syndrome.

Journal of the American Heart Association
2025

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

Stomatologija
2026

Radiologic Approach to Cystic Lung Diseases: From Cyst Definition to Diagnosis.

Seminars in roentgenology
2026

Colors for Resources: Reward-Linked Visual Displays in Orchids.

Plants (Basel, Switzerland)
2026

Kidney Targeting Liposomes Loaded with the Antioxidant Pinocembrin for Treatment of Acute Kidney Injury.

ACS applied materials &amp; interfaces
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
2026

Is Melkersson-Rosenthal syndrome underdiagnosed in oculoplastic clinics?

European journal of ophthalmology
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
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
2026

Lip-Pursing Stereotypies as a Manifestation of Dravet Syndrome in Adulthood.

Annals of Indian Academy of Neurology
2025

Surgical Management of Severe Congenital Ptosis: A Systematic Review.

The Journal of craniofacial surgery
2026

Ascher syndrome unmasked: a rare cause of acquired blepharochalasis in a young female.

Orbit (Amsterdam, Netherlands)
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
2026

Cheilitis: a comprehensive review and a new clinical classification proposal. Part 1: Isolated cheilitis.

Italian journal of dermatology and venereology
2026

The Lived Experience of Facial Paralysis: Impact of Etiology on Patient Perceptions.

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

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

Molecular syndromology
2026

Chronic Lymphocytic Inflammation With Pontine Perivascular Enhancement Responsive to Steroids Clinical Manifestations in Children Versus Adults.

Pediatric neurology
2025

Factors associated with breastfeeding in infants with trisomy 21.

CoDAS
2025

Ivabradine as a treatment for postural orthostatic tachycardia syndrome: A systematic review.

Journal of cardiovascular pharmacology
2025

A pilot randomized trial of a novel digital mandibular advancement device with customized lip bumper: preliminary evaluation of treatment efficacy and relief of lower anterior dental pain in obstructive sleep apnea-hypopnea syndrome.

BMC oral health
2025

Scombroid and Anaphylaxis: Different Diseases Despite Featural Similarities.

Cureus
2025

Hematologic and solid-organ malignancy risk in antineutrophil cytoplasmic antibody (ANCA)-associated vasculitis.

Communications medicine
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

Lupus vorax: A rare case of facial tuberculosis in a patient with Noonan syndrome.

IDCases
2025

Impact of gastrointestinal tract diseases on the oral cavity manifestations.

Folia medica Cracoviensia
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

Cheilitis: a comprehensive review and a new clinical classification proposal. Part 2: Cheilitis associated with dermatological diseases, systemic diseases, or drug reactions.

Italian journal of dermatology and venereology
2025

Bilateral facial palsy due to Melkersson-Rosenthal syndrome.

Practical neurology
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
2025

Chitosan-Coated Liposomes for Intranasal Delivery of Ghrelin: Enhancing Bioavailability to the Central Nervous System.

Pharmaceutics
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

Genotype-phenotype correlations in 9q34.3 microdeletion syndrome: a study of 35 Mainland Chinese patients.

Orphanet journal of rare diseases
2025

Evaluation of the Mid and Lower Face in Three Females With Myhre Syndrome: Objective Methods to Supplement Subjective Assessment.

American journal of medical genetics. Part C, Seminars in medical genetics
2025

Bilateral Palatal Synechiae With Cleft Palate: A Rare Entity.

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

Drug Reaction With Eosinophilia and Systemic Symptoms (DRESS) Syndrome Caused by Pola-R-CHOP: A Case Report.

Cureus
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

Correlation between metabolite concentrations in the frontal lobes, determined using 1H-MRS, and IQ in children with foetal alcohol spectrum disorder.

Polish journal of radiology
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
2025

Giant platelets and persistent bleeding: a pediatric case of Bernard-Soulier syndrome.

Annals of medicine and surgery (2012)
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
2026

Clinical and molecular characterization of ILD in patients with overlapping ASyS and SjD: a retrospective observational study.

Rheumatology (Oxford, England)
2025

Faltering weight in infants with cleft lip and palate.

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

Causation and epidemiological features of proliferative lip and facial lesions in Lao goats.

Tropical animal health and production
2025

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

JAAD case reports
2025

An Unusual Gastrointestinal Presentation of Sjogren's Syndrome: A Case Report.

Clinical 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
2026

Growth Standards for Children With Smith-Magenis Syndrome (SMS).

American journal of medical genetics. Part A
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

Crosstalk between ferroptosis and miRNA in type 2 diabetes mellitus and possible therapeutic targeting.

European journal of medical research
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

Characterizing Differences in Polysomnography Data for Children With Robin Sequence Undergoing Conservative and Surgical Management.

Otolaryngology--head and neck surgery : official journal of American Academy of Otolaryngology-Head and Neck Surgery
2026

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

The Journal of craniofacial surgery
2025

Cardio-kidney-metabolic complexity in patients with atrial fibrillation: an analysis from the prospective GLORIA-AF registry phase III.

Cardiovascular diabetology
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

Comprehensive Management of Pediatric Ascher Syndrome: A Case Report and Literature Review.

Plastic and reconstructive surgery. Global open
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
2026

Polydactyly and Risk of Cancer.

Journal of pediatric orthopedics
2026

Cardiovascular-kidney-metabolic domains and impact on antithrombotic treatment, integrated care and clinical outcomes in patients with atrial fibrillation: results from a prospective European registry.

European journal of internal medicine
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
2025

Head and Neck Malignancies in Autoimmune Polyendocrine Syndrome Type 1 (APS-1/APECED): A Scoping Review of Molecular Pathogenesis, Clinical Features, and Outcomes.

International journal of molecular sciences
2025

Difficult airway and anesthesia management in a patient with sturge-weber syndrome related to excessive lip swollen and giant facial hemangioma: A case report.

Saudi journal of anaesthesia
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

Orbital Infarction Syndrome Following Hyaluronic Acid Lip Filler Injection.

Ophthalmic plastic and reconstructive surgery
2025

From Clinical Suspicion to Therapeutic Resolution: A Case of Melkersson-Rosenthal Syndrome.

Cureus
2025

Rethinking Postprocedural Parenteral Anticoagulation in Acute Coronary Syndrome: Current Practice Amid Limited Evidence.

The Canadian journal of cardiology
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

Clinical complexity in patients with atrial fibrillation: exploring differential risk profiles from European and Asian cohorts.

Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology
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

Stroke-heart syndrome and risk of incident dementia among patients with first-ever ischemic stroke: A territory-wide population-based cohort study.

Alzheimer's &amp; dementia : the journal of the Alzheimer's 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

Clinical features, pathophysiological mechanisms, and multidisciplinary management strategies for rhinitis-induced adenoid facies in children and adolescents: a review.

Frontiers in allergy
2026

Clinical risk phenotypes in diabetes and their associations with adverse cardiovascular events: A report from the Silesia Diabetes-Heart Project.

Diabetic medicine : a journal of the British Diabetic Association
2025

ARID1A gene variants and fetal hydrocephalus: First evidence of mRNA decay escape.

European journal of medical genetics
2025

Cutaneous Manifestations of Primary Sjögren's Syndrome: Pyoderma Gangrenosum as a Rare Initial Presentation - A Case Report and Literature Review.

Annals of African 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

High-Resolution CT Findings in Interstitial Lung Disease Associated with Connective Tissue Diseases: Differentiating Patterns for Clinical Practice-A Systematic Review with Meta-Analysis.

Journal of clinical medicine
2025

Association of Frailty Status with Staging and Mortality Risk of Cardiovascular-Kidney-Metabolic Syndrome in Middle-Aged and Older Populations: Insights from the 1999-2018 National Health and Nutrition Examination Survey.

Journal of clinical medicine
2025

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

Birth defects research
2025

Clinical predictors and prognostic impact of left ventricular thrombus recurrence.

Heart (British Cardiac Society)
2025

Cardiac Rehabilitation in Patients with Coronary Heart Disease - Provision, Attendance, and Outcomes: Results from the INTERASPIRE Survey from Fourteen Countries Across Six WHO Regions.

Global heart

Associações

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Comunidades

Grupos ativos de quem convive com esta doença aqui no Raras

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Doenças relacionadas

Doenças com sintomas parecidos — ajudam quem ainda está buscando diagnóstico

Ordenadas pelo número de sintomas em comum.

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. MASLD as a systemic metabolic disease: expanding the scope of cardiovascular-kidney-metabolic (CKM) syndrome.
    Science China. Life sciences· 2026· PMID 41854965mais citado
  2. Village Doctor-Led Telemedicine for Rural Patients Aged 75 Years and Older With AF: A Prespecified Secondary Analysis of the MIRACLE-AF Trial.
    JAMA network open· 2026· PMID 41817526mais citado
  3. Antiphospholipid antibodies and cardiovascular thrombosis.
    Nature reviews. Cardiology· 2026· PMID 41807758mais citado
  4. Orofacial clefting in PHF6-related B&#xf6;rjeson-Forssman-Lehmann syndrome.
    BMJ case reports· 2026· PMID 41741118mais citado
  5. Cardiovascular-kidney-metabolic interplay in patients with atrial fibrillation receiving direct oral anticoagulants.
    Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology· 2026· PMID 41712451mais citado
  6. Prenatal diagnosis of Blepharo-Cheilo-Dontic syndrome: a case report.
    Arch Gynecol Obstet· 2026· PMID 41563506recente
  7. Syndromes and Genetic Basis of Clefting.
    Facial Plast Surg Clin North Am· 2025· PMID 41101800recente
  8. Airway Management in Children Undergoing Cleft Lip or Cleft Palate Surgery: An 8-Year Retrospective Analysis of 274 Cases.
    Paediatr Anaesth· 2025· PMID 40817740recente
  9. Taurus Philtrum: A Newly Identified Phenomenon in Overfilled Syndrome.
    Aesthetic Plast Surg· 2025· PMID 40425885recente
  10. Numb chin syndrome as initial manifestation of multiple myeloma: correlation of clinical and radiographic findings.
    Quintessence Int· 2025· PMID 40376702recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:2511(Orphanet)
  2. OMIM OMIM:268850(OMIM)
  3. MONDO:0010007(MONDO)
  4. GARD:3596(GARD (NIH))
  5. Busca completa no PubMed(PubMed)
  6. Q55782298(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 microbraquicefalia-ptose-fenda labial

ORPHA:2511 · MONDO:0010007
Prevalência
<1 / 1 000 000
Casos
2 casos conhecidos
Herança
Autosomal recessive
CID-10
Q87.8 · Outras síndromes com malformações congênitas especificadas, não classificadas em outra parte
Início
Infancy, Neonatal
Prevalência
0.0 (Worldwide)
MedGen
UMLS
C0796142
Wikidata
DiscussaoAtiva

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