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).
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
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 17 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 56 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Nenhum gene associado encontrado
Os dados genéticos desta condição ainda estão sendo catalogados.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Síndrome de microbraquicefalia-ptose-fenda labial
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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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Polish journal of radiologyAesthetics Are in the Eye of the Beholder: Evaluation of the Nasolabial Appearance After Primary Cleft Lip Repair.
Journal of clinical medicinePrerepair Mortality in Cleft Lip and/or Palate: A Retrospective Analysis of Early Childhood Deaths.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationManagement of Obstructive Sleep Apnea in Children With Cleft Palate and/or Velopharyngeal Insufficiency: A Primer on Screening, Testing, and Treatment.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationMandibular Symphysis Bone for Alveolar Grafting: 3D Outcomes and Donor Site Regeneration in Patients With Unilateral Cleft Lip and Alveolus.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationCleft@18-23 study research clinics: a protocol for a multicentre observational study across UK cleft centres to understand variation in outcomes at the end of routine cleft care.
BMJ openPharyngeal Airway Dilation After Trans-Sutural Distraction Osteogenesis (TSDO) in Adolescent Cleft Lip and Palate (CLP) Patients With Midfacial Hypoplasia.
The Journal of craniofacial surgeryGiant platelets and persistent bleeding: a pediatric case of Bernard-Soulier syndrome.
Annals of medicine and surgery (2012)An Uncommon Case of Hypophosphataemia-Non-Lethal Raine Syndrome With Novel FAM20C Variant: Expanding the Phenotypic Spectrum.
American journal of medical genetics. Part APolymorphisms in congenital heart disease and extracardiac disorders.
Clinica chimica acta; international journal of clinical chemistryHaploinsufficiency of GRHL2 is associated with orofacial clefting in humans.
Human molecular geneticsClinical and molecular characterization of ILD in patients with overlapping ASyS and SjD: a retrospective observational study.
Rheumatology (Oxford, England)Faltering weight in infants with cleft lip and palate.
Journal of plastic, reconstructive & aesthetic surgery : JPRASCausation and epidemiological features of proliferative lip and facial lesions in Lao goats.
Tropical animal health and productionAnkyloblepharon-ectodermal defects-cleft lip/palate syndrome in monozygotic twins with a novel tumor protein p63 gene pathogenic variant.
JAAD case reportsAn Unusual Gastrointestinal Presentation of Sjogren's Syndrome: A Case Report.
Clinical case reportsEctrodactyly, Cleft Lip/Palate, and Urinary Anomalies With a Tumor Protein p63 (TP63) Mutation: A Case Report and Literature Review.
CureusPrevalence of Chronic Gastrointestinal Disorders in Patients With Cleft Lip and/or Palate.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationPrenatal diagnosis of 15q13.3 deletion and duplication syndrome: what do we tell the prospective parents?
Archives of gynecology and obstetricsThe Burden of Cleft Surgery a 36-Year Reflection of Surgical Management of Children With Orofacial Clefts in South Australia.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationGrowth Standards for Children With Smith-Magenis Syndrome (SMS).
American journal of medical genetics. Part AOxidative stress-mediated apoptosis via the SLC23A2-ascorbic acid interaction contributes to cleft lip development.
Frontiers in pediatricsPsychological, Medical and Educational Experiences of Adolescents With Orofacial Clefts in South Australia.
International journal of paediatric dentistryA Rare Congenital Unilateral Solitary Lower Lip Pit without Cleft Lip and/or Palate: Case Report and Structured Review.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationIs a Vomer Flap at Primary Palatoplasty Associated With the Formation of a Bony Palatal Bridge?
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationSyndromes and Genetic Basis of Clefting.
Facial plastic surgery clinics of North AmericaEffects of Food Preferences and Supplement Intake During Pregnancy on the Cleft Lip and Palate Incidence: The Japan Environment and Children's Study.
NutrientsCrosstalk between ferroptosis and miRNA in type 2 diabetes mellitus and possible therapeutic targeting.
European journal of medical researchNatural conception complicated by spontaneous ovarian hyperstimulation syndrome in the setting of severe primary hypothyroidism: A case series.
MedicineQuality of life of children treated for cleft lip or palate in a selected South African population: a questionnaire-based survey of guardian/parent perspectives.
Oral and maxillofacial surgeryCharacterizing 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 SurgeryNasal Glioma in a Newborn With Suspected Pai Syndrome: Surgical and Diagnostic Insights.
The Journal of craniofacial surgeryCardio-kidney-metabolic complexity in patients with atrial fibrillation: an analysis from the prospective GLORIA-AF registry phase III.
Cardiovascular diabetologyGenetic heterogeneity and homogeneity among orofacial cleft subtypes: genome-wide association studies in the cleft collective.
Human molecular geneticsComparative Analysis of Maxillary Sinus Volume in Patients With Cleft Lip and Palate Versus Class III Malocclusion Patients Using CBCT.
Orthodontics & craniofacial researchComprehensive Management of Pediatric Ascher Syndrome: A Case Report and Literature Review.
Plastic and reconstructive surgery. Global openPresurgical Nasal Molding in a Bilateral Cleft Lip and Palate Patient with Patau Syndrome Using a Novel Bhatia's Hook: A Case Report.
International journal of clinical pediatric dentistryMature Cleft Rhinoplasty: Morphologic Outcomes of Septal Cartilage Grafting.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationThree-dimensional longitudinal assessment of nasal development with and without Nasoalveolar molding therapy in cleft lip and palate patients.
Clinical oral investigationsIdentification of Novel and Rare Gene Variants in Cleft Lip/Palate Patients From Kuwaiti Consanguineous Families by Exome Sequencing.
American journal of medical genetics. Part APolydactyly and Risk of Cancer.
Journal of pediatric orthopedicsCardiovascular-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 medicineManagement of Severe Maxillary Atrophy in a Patient With Hay-Wells Syndrome.
The Journal of craniofacial surgeryAnxiety in Caregivers of Chinese Children Under 3 Years Old with Cleft Lip or Palate.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationExploring prenatal risk factors associated with congenital anomalies among newborns in national referral hospital, Indonesia.
The Medical journal of MalaysiaHead 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 sciencesDifficult 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 anaesthesiaWNT4 deficiency impacts heart, diaphragm, and palate development: Insights from human genetics, machine learning, and mouse models.
Developmental biologyCausal Links Between Psychiatric Disorders, Sleep Apnea, and Oral and Maxillofacial Diseases Modules: A Mendelian Randomization Study.
The Journal of craniofacial surgeryA Scoping Review of Socioeconomic Factors in Orofacial Cleft Research.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationOrbital Infarction Syndrome Following Hyaluronic Acid Lip Filler Injection.
Ophthalmic plastic and reconstructive surgeryFrom Clinical Suspicion to Therapeutic Resolution: A Case of Melkersson-Rosenthal Syndrome.
CureusRethinking Postprocedural Parenteral Anticoagulation in Acute Coronary Syndrome: Current Practice Amid Limited Evidence.
The Canadian journal of cardiologyComparative Evaluation of Z-Plasty and Linear Closure in Ankyloglossia Patients: A Randomized Study of Effects on Speech Articulation and Airway Volume.
Journal of oral and maxillofacial surgery : official journal of the American Association of Oral and Maxillofacial SurgeonsPalate-first versus lip-first surgical repair sequence in unilateral cleft lip, alveolus, and palate: A retrospective cephalometric comparison of maxillary growth at 5-year follow-up.
Journal of cranio-maxillo-facial surgery : official publication of the European Association for Cranio-Maxillo-Facial SurgeryTrends in orofacial cleft prevalence and the effect of prenatal detection on pregnancy outcomes in Northern Netherlands.
Annals of epidemiologyClinical 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 CardiologyNevoid Basal Cell Carcinoma Syndrome Associated With Cleft Lip and Palate: A Case Report and Literature Review.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationInfluence of Cupid's Bow Peak Placement on Nasolabial Formation in Unilateral Cleft Lip Repair.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationStroke-heart syndrome and risk of incident dementia among patients with first-ever ischemic stroke: A territory-wide population-based cohort study.
Alzheimer's & dementia : the journal of the Alzheimer's AssociationA Novel TP63 Missense Mutation in the Sumoylation Motif Causes Isolated Split-Hand/Foot Malformation 4: A Pedigree Report and Literature Review.
Molecular genetics & genomic medicineClinical features, pathophysiological mechanisms, and multidisciplinary management strategies for rhinitis-induced adenoid facies in children and adolescents: a review.
Frontiers in allergyClinical 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 AssociationARID1A gene variants and fetal hydrocephalus: First evidence of mRNA decay escape.
European journal of medical geneticsCutaneous Manifestations of Primary Sjögren's Syndrome: Pyoderma Gangrenosum as a Rare Initial Presentation - A Case Report and Literature Review.
Annals of African medicineA Clinical Study of 2253 Cases of Primary and Secondary Defects Associated With Non-Syndromic Orofacial Clefts in Somalia: The First Report of Charity Operation by the Bela Risu Foundation in Somalia.
Congenital anomaliesHigh-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 medicineAssociation 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 medicineCancer Risk and Genetic Associations in Individuals With Cleft Lip and Palate and Their Families: A Narrative Review.
Birth defects researchClinical predictors and prognostic impact of left ventricular thrombus recurrence.
Heart (British Cardiac Society)Cardiac Rehabilitation in Patients with Coronary Heart Disease - Provision, Attendance, and Outcomes: Results from the INTERASPIRE Survey from Fourteen Countries Across Six WHO Regions.
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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.
- MASLD as a systemic metabolic disease: expanding the scope of cardiovascular-kidney-metabolic (CKM) syndrome.
- Village Doctor-Led Telemedicine for Rural Patients Aged 75 Years and Older With AF: A Prespecified Secondary Analysis of the MIRACLE-AF Trial.
- Antiphospholipid antibodies and cardiovascular thrombosis.
- Orofacial clefting in PHF6-related Börjeson-Forssman-Lehmann syndrome.
- 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
- Prenatal diagnosis of Blepharo-Cheilo-Dontic syndrome: a case report.
- Syndromes and Genetic Basis of Clefting.
- Airway Management in Children Undergoing Cleft Lip or Cleft Palate Surgery: An 8-Year Retrospective Analysis of 274 Cases.
- Taurus Philtrum: A Newly Identified Phenomenon in Overfilled Syndrome.
- Numb chin syndrome as initial manifestation of multiple myeloma: correlation of clinical and radiographic findings.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:2511(Orphanet)
- OMIM OMIM:268850(OMIM)
- MONDO:0010007(MONDO)
- GARD:3596(GARD (NIH))
- Busca completa no PubMed(PubMed)
- 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