Escoliose é uma condição médica em que a coluna vertebral da pessoa apresenta uma deformação lateral, formando uma curva. A curva tem geralmente a forma de um "S" ou "C". Em alguns casos o grau de curvatura é estável, enquanto em outros vai aumentando progressivamente com os anos. A escoliose ligeira geralmente não causa problemas, enquanto os casos mais graves podem interferir com a respiração. Geralmente não existe dor associada à escoliose.
Introdução
O que você precisa saber de cara
Deformidades congênitas dos membros são condições genéticas (ex: mutações no gene HOXD10) que causam anomalias no desenvolvimento dos membros, resultando em encurvamento ósseo, contraturas tendinosas, luxações articulares e diversas deformidades nos pés, como pé plano ou calcaneovalgo. Podem apresentar dor, anormalidades musculares e cutâneas.
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 11 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 17 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
Genes associados
1 gene identificado com associação a esta condição.
Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis
Nucleus
Vertical talus, congenital
A rare malformation characterized by vertical orientation of the talus with a rigid dorsal dislocation of the navicular, equinus deformity of the calcaneus, abduction deformity of the forefoot, and contracture of the soft tissues of the hind- and mid-foot. This condition is usually associated with multiple other congenital deformities and only rarely is an isolated deformity with familial occurrence.
Variantes genéticas (ClinVar)
31 variantes patogênicas registradas no ClinVar.
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 — Deformidades congênitas dos membros
Centros de Referência SUS
24 centros habilitados pelo SUS para Deformidades congênitas dos membros
Centros para Deformidades congênitas dos membros
Detalhes dos centros
Hospital Universitário Prof. Edgard Santos (HUPES)
R. Dr. Augusto Viana, s/n - Canela, Salvador - BA, 40110-060 · CNES 0003808
Serviço de Referência
Hospital Infantil Albert Sabin
R. Tertuliano Sales, 544 - Vila União, Fortaleza - CE, 60410-794 · CNES 2407876
Serviço de Referência
Hospital de Apoio de Brasília (HAB)
AENW 3 Lote A Setor Noroeste - Plano Piloto, Brasília - DF, 70684-831 · CNES 0010456
Serviço de Referência
Hospital Estadual Infantil e Maternidade Alzir Bernardino Alves (HIABA)
Av. Min. Salgado Filho, 918 - Soteco, Vila Velha - ES, 29106-010 · CNES 6631207
Serviço de Referência
Hospital das Clínicas da UFG
Rua 235 QD. 68 Lote Área, Nº 285, s/nº - Setor Leste Universitário, Goiânia - GO, 74605-050 · CNES 2338424
Serviço de Referência
Hospital Universitário da UFJF
R. Catulo Breviglieri, Bairro - s/n - Santa Catarina, Juiz de Fora - MG, 36036-110 · CNES 2297442
Atenção Especializada
Hospital das Clínicas da UFMG
Av. Prof. Alfredo Balena, 110 - Santa Efigênia, Belo Horizonte - MG, 30130-100 · CNES 2280167
Serviço de Referência
Hospital Universitário Julio Müller (HUJM)
R. Luis Philippe Pereira Leite, s/n - Alvorada, Cuiabá - MT, 78048-902 · CNES 2726092
Atenção Especializada
Hospital Universitário João de Barros Barreto
R. dos Mundurucus, 4487 - Guamá, Belém - PA, 66073-000 · CNES 2337878
Serviço de Referência
Hospital Universitário Lauro Wanderley (HULW)
R. Tabeliao Estanislau Eloy, 585 - Castelo Branco, João Pessoa - PB, 58050-585 · CNES 0002470
Atenção Especializada
Instituto de Medicina Integral Prof. Fernando Figueira (IMIP)
R. dos Coelhos, 300 - Boa Vista, Recife - PE, 50070-902 · CNES 0000647
Serviço de Referência
Hospital Pequeno Príncipe
R. Des. Motta, 1070 - Água Verde, Curitiba - PR, 80250-060 · CNES 3143805
Serviço de Referência
Hospital Universitário Regional de Maringá (HUM)
Av. Mandacaru, 1590 - Parque das Laranjeiras, Maringá - PR, 87083-240 · CNES 2216108
Atenção Especializada
Hospital de Clínicas da UFPR
R. Gen. Carneiro, 181 - Alto da Glória, Curitiba - PR, 80060-900 · CNES 2364980
Serviço de Referência
Hospital Universitário Pedro Ernesto (HUPE-UERJ)
Blvd. 28 de Setembro, 77 - Vila Isabel, Rio de Janeiro - RJ, 20551-030 · CNES 2280221
Serviço de Referência
Instituto Nacional de Saúde da Mulher, da Criança e do Adolescente Fernandes Figueira (IFF/Fiocruz)
Av. Rui Barbosa, 716 - Flamengo, Rio de Janeiro - RJ, 22250-020 · CNES 2269988
Serviço de Referência
Hospital São Lucas da PUCRS
Av. Ipiranga, 6690 - Jardim Botânico, Porto Alegre - RS, 90610-000 · CNES 2232928
Serviço de Referência
Hospital de Clínicas de Porto Alegre (HCPA)
Rua Ramiro Barcelos, 2350 Bloco A - Av. Protásio Alves, 211 - Bloco B e C - Santa Cecília, Porto Alegre - RS, 90035-903 · CNES 2237601
Serviço de Referência
Hospital Universitário da UFSC (HU-UFSC)
R. Profa. Maria Flora Pausewang - Trindade, Florianópolis - SC, 88036-800 · CNES 2560356
Serviço de Referência
Hospital das Clínicas da FMUSP
R. Dr. Ovídio Pires de Campos, 225 - Cerqueira César, São Paulo - SP, 05403-010 · CNES 2077485
Serviço de Referência
Hospital de Base de São José do Rio Preto
Av. Brg. Faria Lima, 5544 - Vila Sao Jose, São José do Rio Preto - SP, 15090-000 · CNES 2079798
Atenção Especializada
Hospital de Clínicas da UNICAMP
R. Vital Brasil, 251 - Cidade Universitária, Campinas - SP, 13083-888 · CNES 2748223
Serviço de Referência
Hospital de Clínicas de Ribeirão Preto (HCRP-USP)
R. Ten. Catão Roxo, 3900 - Vila Monte Alegre, Ribeirão Preto - SP, 14015-010 · CNES 2082187
Serviço de Referência
UNIFESP / Hospital São Paulo
R. Napoleão de Barros, 715 - Vila Clementino, São Paulo - SP, 04024-002 · CNES 2688689
Serviço de Referência
Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.
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Frontiers in pediatricsTreatment Trends in Symbrachydactyly: Surgical Management in Milder Cases and Nonoperative Treatment in Severe Ones.
Journal of pediatric orthopedicsFunctional outcome measures for pediatric upper limb deficiencies with and without prostheses: A systematic review and appraisal.
Prosthetics and orthotics internationalThe CoULD Ulnar Polydactyly Classification: A Multicenter Analysis.
Plastic and reconstructive surgeryCongenital palmar duplication of the long finger: ventral polydactyly with distal ventral dimelia.
The Journal of hand surgery, European volumeArthrogryposis and axonopathy in the spinal cord in offspring of beef cattle grazing regrowth Sorghum spp. in Brazil.
Toxicon : official journal of the International Society on ToxinologyEvidence of intact resting but exercise-induced vascular impairment in congenital heart disease.
American journal of physiology. Regulatory, integrative and comparative physiologyCHILD syndrome combined linear porokeratosis in a patient with a good response to the topical lovastatin/cholesterol ointment.
The Journal of dermatological treatmentEarly-onset Pachyonychia Congenita with Oral and Cutaneous Manifestations.
Annals of African medicineGross Motor Function and Musculoskeletal Deformities in Children With Congenital Zika Virus Syndrome.
Journal of musculoskeletal & neuronal interactionsFemoral Trochlear Dysplasia Is Common in Lower Limbs With Hartofilakidis C2 Hip Dysplasia.
Clinical orthopaedics and related researchPortal vein dilation in Klippel-Trenaunay and CLOVES syndromes.
International angiology : a journal of the International Union of AngiologyFunctional Assessment of Congenital Radioulnar Synostosis in Children.
Avicenna journal of medicineClinical features and radiological findings of congenital proximal radioulnar synostosis with special reference to radial head dislocation type and ankylosed position.
Journal of shoulder and elbow surgeryPredictors of Syndromic Association in Ulnar Polydactyly: Analysis of a Multicenter Congenital Hand Differences Registry in the United States.
The Journal of hand surgeryPrenatal diagnosis of geleophysic dysplasia with ADAMTSL2 mutations.
Taiwanese journal of obstetrics & gynecologyUlnar polydactyly of the hand: a classification system and clinical series.
BMC musculoskeletal disordersAbsence of Neurodevelopmental Impairment in an Individual With KCNN3 -Related Zimmermann Laband Syndrome.
American journal of medical genetics. Part AIsolated Cutis Marmorata Telangiectatica Congenita in a Full-Term Neonate: A Case Report.
CureusFunctional accessory limb arising from the buttock: a case report.
BMC pediatricsMagnetic resonance quantification of regional blood flow and oxygen delivery to the brain, gut, kidneys, and lower extremities in adolescents with a Fontan circulation compared to biventricular controls.
Journal of cardiovascular magnetic resonance : official journal of the Society for Cardiovascular Magnetic ResonanceCase report of congenital myotonic dystrophy with multiple prenatal sonographic findings.
Case reports in perinatal medicine[Detection of PIK3CA gene mutation by fluorescence PCR and its application in molecular diagnosis of macrodactyly].
Zhonghua bing li xue za zhi = Chinese journal of pathologyAtypical Presentation of Congenital Muscular Dystrophy: A LAMA2 Related Muscular Dystrophy.
Journal of child neurologyUnilateral Pachydermodactyly in a Young Female: A Rare Diagnosis Requiring Novel Clinicopathological Correlation.
Journal of cutaneous pathologyThe Rare Syndrome Aicardi-Goutières 4: A Case Report and Literature Review.
Developmental neurobiologyKeloid formation after congenital toe syndactyly release is associated with preoperative toe hypertrophy: A retrospective observational clinical study.
Journal of plastic, reconstructive & aesthetic surgery : JPRASFrom Hope to Heartache: A Case Report of Treatment Failure and its Impact on a 1-year-old with Bilateral Radial Aplasia in a Resource-Limited Setting.
Journal of orthopaedic case reportsUltrasound-guided femoral nerve block combined with lateral femoral cutaneous nerve block in a patient with congenital insensitivity to pain and anhidrosis: a case report.
BMC anesthesiologyCorrelation of the LLRS-AIM Index With LD-SRS and PROMIS in Pediatric Patients With Lower Limb Differences.
Journal of pediatric orthopedicsOverlap Diagnostic Odyssey and Full Mouth Rehabilitation of a Juvenile Patient With IFIH1-Related Disorder: A Case of Aicardi-Goutières and Singleton Merten Syndromes Overlap.
Special care in dentistry : official publication of the American Association of Hospital Dentists, the Academy of Dentistry for the Handicapped, and the American Society for Geriatric DentistryX-linked dominant chondrodysplasia punctata due to novel mutation in EBP gene: A case report.
MedicineEmbryonic Vascular Dysgenesis: The Origin of Proximal Femoral Focal Deficiency.
Birth defects researchCongenital absence of omentum with short bowel syndrome: a case report.
Journal of medical case reportsRisk of Major Congenital Malformations Following Prenatal Exposure to Smoking Cessation Medicines.
JAMA internal medicineThe Arterial Supply to the Foot and its Correlation With Return of Capillary Filling Post-Achilles Tenotomy in Congenital Clubfoot.
Journal of pediatric orthopedicsThe prevalence and characteristics of polydactyly in neonates: A retrospective study of two tertiary hospitals in Saudi Arabia.
Congenital anomaliesIVCA in a Boy with Multilocular Renal Cyst as a Risk Factor for Deep Vein Thrombosis.
Journal of mother and childExploring ethnic and geographic disparities in polydactyly incidence in New Zealand 2010-2022.
ANZ journal of surgeryFemoral-facial syndrome in a Black Bantu African preterm infant: a case report.
Journal of medical case reportsThe RSPO2 gene is associated with bilateral anterior amelia in Chihuahuas.
Mammalian genome : official journal of the International Mammalian Genome SocietyFamilial Congenital Ossicular Anomaly: A Case Report.
Journal of Nippon Medical School = Nippon Ika Daigaku zasshiTreatment for central polydactyly of the foot with nine toes: a rare case report.
BMC musculoskeletal disordersRight bundle branch in ventricular septal defects.
European journal of cardio-thoracic surgery : official journal of the European Association for Cardio-thoracic SurgeryPatient-Reported Outcomes After Congenital Toe Syndactyly Repair with a Plantar Triangular Flap.
Journal of the American Podiatric Medical AssociationExternal fixators and lengthening systems in pediatric upper limb.
Journal of children's orthopaedicsFemoral Shortening Osteotomy in Managing Congenital Patellar Dislocation: A Case Report and Review of Literature.
Journal of orthopaedic case reportsFluid responsiveness of ambulatory paediatric patients with a Fontan circulation by passive leg raising.
Cardiology in the youngCongenital long QT syndrome caused by a KCNH2 pathogenic variant exhibiting "motor seizures": a case report and literature review.
BMC pediatricsAmniotic band syndrome: Insights from first documented case report in Somalia's low-resource setting.
International journal of surgery case reportsUlnar Longitudinal Deficiency with Postaxial Polydactyly: A Case Report.
JBJS case connectorBi-allelic MED16 variants cause a MEDopathy with intellectual disability, motor delay, and craniofacial, cardiac, and limb malformations.
American journal of human geneticsGenome-Wide Scan of Fifth Finger Clinodactyly.
Molecular genetics & genomic medicineUse of skeletal and soft tissue imaging to guide the surgical repair of misclassified Wassel type VI thumb duplication with convergent deformity.
Journal of plastic, reconstructive & aesthetic surgery : JPRASLong-Term Outcomes of Early Enzyme Replacement Therapy With Asfotase Alfa in Perinatal Benign Hypophosphatasia: Amelioration of Bone Deformities in a Young Child.
CureusGenotype-Phenotype Landscape of NALCN and UNC80-Related Disorders.
NeurologyPostoperative and Long-Term Patient-Reported Outcomes of Type A Ulnar Polydactyly.
Plastic and reconstructive surgery[Patient-specific 3D-printed implants and templates for elbow and forearm].
Unfallchirurgie (Heidelberg, Germany)De Novo Deletion in the 12q24.23q24.31 Chromosomal Region Causing a Neurodevelopmental Syndrome in a Female Saudi Patient: A Case Report.
CureusFreiberg's disease: variation of surgeries, outcomes, and first population-based incidence.
Journal of pediatric orthopedics. Part BUltrasound-Based Analysis of Fetal Conus Medullaris Anomalies: A Comprehensive Study on Prenatal Diagnosis and Postnatal Outcomes.
Pediatric neurologyCongenital Lower Extremity.
Clinics in plastic surgeryCongenital Differences of the Hand and Pediatric Brachial Plexus Birth Palsy.
Clinics in plastic surgery[Rare osteological diseases in the rheumatological consultation: hypophosphatasia and phosphate loss syndromes].
Zeitschrift fur RheumatologieInfantile myofibromatosis: Small bumps pose big problems.
Journal of neonatal-perinatal medicineClinical Outcome of Modified Wassel-Flatt Type IV Radial Polydactyly: Analysis of Subtype and Morphology.
The Journal of hand surgeryERF-Related Craniosynostosis in a Patient With Hypochondroplasia: A Case Report.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationLower Extremity Abnormalities in Children.
American family physicianSilicone Locking-Liner Socket with a Lightweight Aesthetic Prosthesis for Short Congenital Forearm Stumps: A Report of Two Patients.
The journal of hand surgery Asian-Pacific volumeS-design osteotomy and internal fixation for multiplanar and acute correction of deformity in infantile Blount's disease - preliminary results from single centre series.
International orthopaedicsRevisiting short finger and cleft type symbrachydactyly subtype differentiation utilizing the congenital upper limb differences (CoULD) registry.
The Journal of hand surgery, European volumeComparative Efficacy of 3D-Printed Insoles in Managing Common Foot Conditions: A Review.
Medical science monitor : international medical journal of experimental and clinical researchPolydactyly and syndactyly linked to GLI3 and TBX5 mutations: A pediatric case report.
Global medical geneticsAnesthetic management of a 9-year-old girl with Congenital Contractures of the Limbs and Face, Hypotonia, and Developmental Delay syndrome: airway difficulties and postoperative apnea during tendon surgery.
Anesthesia and pain medicineHighlighting the importance of X-ray diagnostics for targeted molecular genetic analysis in the diagnosis of rare autosomal dominant craniometaphyseal dysplasia.
BMJ case reportsSingle-Stage Reconstruction of Congenital Multifinger Syndactyly with Contiguous Cross-Shaped Advancement Flaps.
Plastic and reconstructive surgeryClinical study of the 'U'-shaped staple-guided growth technique in the treatment of congenital anterolateral bowing of the tibia in children.
Journal of pediatric orthopedics. Part BReconstructive surgery to preserve ankle function in a 5-year-old girl with bilobed distal tibia in an unclassified case of tibial hemimelia: a case report.
Journal of medical case reportsArtificial intelligence-based, non-invasive assessment of the central aortic pressure in adults after operative or interventional treatment of aortic coarctation.
Open heartA physiotherapeutic approach to a baby with right disgenesis of thumb and left agenesis of upper extremity: A case report.
Prosthetics and orthotics internationalSurgical outcomes of radial polydactyly according to a modified Wassel-Flatt classification: A retrospective study of 211 patients with 223 thumbs.
The Journal of hand surgery, European volumeNeonatal upper limb arteriovenous malformation: a therapeutic challenge.
BMJ case reportsGeneralized lymphatic anomaly in a pediatric patient manifesting as a rare presentation of hemorrhagic pleural effusion: a case report.
BMC pediatrics[Structural equation analysis and modeling of wrist WMSDs and its adverse ergonomic factors].
Zhonghua lao dong wei sheng zhi ye bing za zhi = Zhonghua laodong weisheng zhiyebing zazhi = Chinese journal of industrial hygiene and occupational diseasesSurface electromyography evaluation for decoding hand motor intent in children with congenital upper limb deficiency.
Scientific reportsA dual dimensional optimization strategy for automatic osteotomy preoperative planning in congenital radioulnar synostosis.
Scientific reportsMacrodystrophia lipomatosa: Clinical and radiological insights into localized gigantism.
Radiology case reportsRotational osteotomy of forearm bones for treatment of congenital radioulnar synostosis in children.
Journal of orthopaedic surgery and researchAssociações
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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.
- Management of Lower-Extremity Deformity in Arthrogryposis Multiplex Congentia: A Narrative Review.Medical science monitor : international medical journal of experimental and clinical research· 2026· PMID 41821200mais citado
- Preoperative physiotherapy rehabilitation of lower limb deformities secondary to meningomyelocele in mid-childhood.
- Short foot exercises for flatfoot therapy: Status and prospects.
- Foot alignment characteristics in patients with Freiberg's disease.Journal of orthopaedic science : official journal of the Japanese Orthopaedic Association· 2026· PMID 40603195mais citado
- Vertical right axillary thoracotomy: strategic insights for reproducible outcomes.
- [Dental esthetic restoration for cleft lip and palate patients].
- [Tubular Breast Deformity: Presentation of an Established Treatment Algorithm and Results of a Retrospective Study Over 7 Years].
- De Novo Missense Mutation in FREM1 Identified in a Chinese Patient with Comorbid Congenital Microtia and Pulmonary Hypoplasia.
- Network Analysis of Legg-Calve-Perthes Disease and Its Comorbidities.
- Otoplasty and Ear Reconstruction Complications.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:294944(Orphanet)
- MONDO:0017427(MONDO)
- GARD:21181(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Q5160441(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
