O pé torto congênito familiar, com ou sem outras alterações nas pernas, é uma síndrome rara que causa malformações nos membros presentes desde o nascimento. Ela é caracterizada por um desalinhamento dos ossos e juntas do pé e tornozelo. Isso se manifesta com a parte da frente e do meio do pé viradas para dentro, o calcanhar também virado para dentro e o tornozelo em uma posição que simula estar na ponta do pé. O resultado é um pé que fica rigidamente virado para dentro, em direção ao centro do corpo, e isso ocorre em diversos membros de uma mesma família. É comum que os músculos da panturrilha (a parte de trás da perna) estejam pouco desenvolvidos. As pessoas afetadas também podem ter outras malformações nas pernas, como a rótula (osso do joelho) pouco desenvolvida, um dos ossos do tornozelo em posição inclinada, a tíbia (osso da canela) parcial ou totalmente ausente, e dedos extras nos pés.
Introdução
O que você precisa saber de cara
O pé torto congênito familiar, com ou sem outras alterações nas pernas, é uma síndrome rara que causa malformações nos membros presentes desde o nascimento. Ela é caracterizada por um desalinhamento dos ossos e juntas do pé e tornozelo. Isso se manifesta com a parte da frente e do meio do pé viradas para dentro, o calcanhar também virado para dentro e o tornozelo em uma posição que simula estar na ponta do pé. O resultado é um pé que fica rigidamente virado para dentro, em direção ao centro do corpo, e isso ocorre em diversos membros de uma mesma família. É comum que os músculos da panturrilha (a parte de trás da perna) estejam pouco desenvolvidos. As pessoas afetadas também podem ter outras malformações nas pernas, como a rótula (osso do joelho) pouco desenvolvida, um dos ossos do tornozelo em posição inclinada, a tíbia (osso da canela) parcial ou totalmente ausente, e dedos extras nos pés.
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 7 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 21 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
2 genes identificados com associação a esta condição.
Sequence-specific transcription factor that binds gene promoters and activates their transcription. May play a role in the development of anterior structures, and in particular, the brain and facies and in specifying the identity or structure of hindlimb
Nucleus
Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly
A congenital limb deformity defined as fixation of the foot in cavus, adductus, varus, and equinus (i.e., inclined inwards, axially rotated outwards, and pointing downwards) with concomitant soft tissue abnormalities. Clubfoot may occur in isolation or as part of a syndrome. Some patients present tibial hemimelia, bilateral patellar hypoplasia, and preaxial mirror-image polydactyly.
Transcriptional regulator that has an essential role in the organogenesis of lungs, pelvis, and hindlimbs
Nucleus
Ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension
An autosomal dominant bone disease characterized by patellar aplasia or hypoplasia and by anomalies of the pelvis and feet, including disrupted ossification of the ischia and inferior pubic rami.
Variantes genéticas (ClinVar)
149 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 — Hemimelia tibial - pé boto
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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[Schwannomatosis diagnosed from an approximately 30-year history of multiple mononeuropathy accompanied by multiple cauda equina nodules: a case report].
A 51-year-old woman presented with left drop foot at age 20, numbness in the right fourth and fifth fingers at age 45, and numbness in both lower extremities at age 51. Lumbar MRI revealed multiple cauda equina nodules, while ultrasonography of the peripheral nerve identified enlarged nerve bundles in several locations, including the right ulnar and left peroneal nerves. Nerve conduction studies and upper extremity MRI findings were consistent with these observations, and head MRI confirmed the absence of auditory schwannomas. Schwannomatosis (SWN) is a rare disease characterized by the formation of multiple peripheral schwannomas, associated with genetic abnormalities such as SMARCB1 and LZTR1. When multiple peripheral nerve tumors are detected, SWN should be considered as part of the differential diagnosis.
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HereditasPrevalence and trends of major congenital anomalies in Brazil: A study from 2011 to 2020.
PloS oneA type II proatlantal artery arising from the external carotid artery: A review of neurovascular anatomy.
Surgical neurology internationalFrench experience in the management of fibular hemimelia: Radiographic and functional outcomes.
Orthopaedics & traumatology, surgery & research : OTSRSuccessful Management of Pregnancy in a Patient With Fabry Disease Receiving Continuous Enzyme Replacement Therapy: A Case Report and Literature Review.
CureusUnexplained Multi-Site Thrombosis: A Step-by-Step Strategy for Factor V Leiden Detection in a Hypercoagulable Patient.
The journal of Tehran Heart CenterCombined Distal Femoral Osteotomy and Medial Patellofemoral Ligament Reconstruction for Patellar Instability and Genu Valgus: A Case Report and Literature Review.
Orthopaedic surgeryChasing Highs, Experiencing Lows: A Case of Hypokalemia Associated With Cannabis Use.
CureusFemoral Trochlear Dysplasia Is Common in Lower Limbs With Hartofilakidis C2 Hip Dysplasia.
Clinical orthopaedics and related researchPrenatal Counseling for Congenital Clubfoot.
Journal of the Pediatric Orthopaedic Society of North AmericaCharacterization of Secondary Health Conditions Among United States Service Members with Combat-Related Lower Extremity Limb Salvage.
Journal of clinical medicineEvaluating the Accuracy, Clarity, and Safety of Artificial Intelligence-Generated Information on Clubfoot.
The Journal of the American Academy of Orthopaedic SurgeonsWhen Giant Lymphangioma Meets Hydrops Fetalis: An Uncommon Case Report of Lower Extremity Involvement.
Maternal-fetal medicine (Wolters Kluwer Health, Inc.)Variation in clinical presentation of hospitalized patients with diabetic foot ulcers who underwent lower leg amputation in the Bronx from 2016-2021.
Endocrinology, diabetes & metabolism case reportsA new association between Kleefstra syndrome and Panayiotopoulos epilepsy.
Italian journal of pediatricsStructural brain correlates of balance control in children with cerebral palsy: baseline correlations and effects of training.
Brain structure & functionIsolated scleroderma of the lower extremities misdiagnosed as lymphedema and presenting with scleroderma renal crisis.
Journal of scleroderma and related disordersBeyond EDSS: multidomain impairments are detectable and associated with walking disorders in low-disabled people with multiple sclerosis.
Journal of neurologyCritical Anatomic Variants in Peripheral Artery Disease Interventions.
Seminars in interventional radiologyPrenatal diagnosis and management of desbuquois dysplasia type 1 due to CANT1 mutation: A case report.
Taiwanese journal of obstetrics & gynecologyFatal spontaneous spinal subdural hematoma in a patient on anticoagulant therapy.
Journal of forensic sciencesSuccessful Treatment of a Chronic Venous Ulcer Caused by an Undiagnosed Arteriovenous Fistula: A Case Report.
Annals of plastic surgeryChronic Quadriceps Tendon Rupture-Surgical Treatment and Outcomes: A Systematic Review.
The journal of knee surgeryThe incomplete cloaca and Bardet-Biedl syndrome: A remarkable association with broader implications on patient's care.
Journal of pediatric urologyFunctional accessory limb arising from the buttock: a case report.
BMC pediatricsCore diagnostic features of stiff person syndrome: insights from a case-control study.
Journal of neurologyConcurrent Acute Limb Ischemia and Pulmonary Embolism in an Adult With Repaired Tetralogy of Fallot: A Case Report.
CureusOccurrence of Malformations of the Upper Extremity in Tibial Hemimelia: Correlation with the Jones Classification.
Indian journal of orthopaedicsPhysical Therapy Management of the First-Time Patellar Instability Event.
Video journal of sports medicineKnee torsion predicts the preoperative J-sign grade in patients with recurrent patellar dislocation : a prospective study.
The bone & joint journalBilateral postoperative lumbosacral plexopathy: A case report.
International journal of surgery case reportsKabuki Syndrome With Cardiac Manifestations: A Case Report and Mini-Literature Review From the United Arab Emirates (UAE).
CureusBilateral Persistent Sciatic Veins: A Cadaveric Case Report.
The Kurume medical journalThe functional popliteal angle test can detect features of hamstring spasticity.
Clinical biomechanics (Bristol, Avon)Keloid formation after congenital toe syndactyly release is associated with preoperative toe hypertrophy: A retrospective observational clinical study.
Journal of plastic, reconstructive & aesthetic surgery : JPRASAge-dependent brain subcortical white and gray matter disruptions in patients with posttraumatic stress disorder.
Anatomy & cell biologyCorrelation Between Socioeconomic Status and Brace Compliance in Idiopathic Clubfoot Deformities.
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Frontiers in bioscience (Landmark edition)IVCA in a Boy with Multilocular Renal Cyst as a Risk Factor for Deep Vein Thrombosis.
Journal of mother and childStickler syndrome: associated musculoskeletal manifestations and first population-based incidence.
Journal of pediatric orthopedics. Part BDopa responsive dystonia due to a GCH1 gene variant mimicking hereditary spastic paraparesis.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical NeurophysiologyThe implications of hyperekplexia on children's quality of life: a report on two cases.
Revista paulista de pediatria : orgao oficial da Sociedade de Pediatria de Sao PauloBody weight is associated with the ability to perform deep squats in school-aged Japanese children and adolescents: A retrospective cohort study.
Journal of orthopaedic science : official journal of the Japanese Orthopaedic AssociationUnilateral amelia with limb deformities and multiple congenital malformations in a newborn: a case report from Palestine.
Annals of medicine and surgery (2012)Ulnar Longitudinal Deficiency with Postaxial Polydactyly: A Case Report.
JBJS case connectorCase Report: Prepubertal-type testicular teratoma with local metastasis in a postpubertal patient.
Frontiers in oncologyPrenatal predictors of ventriculoperitoneal shunt requirement and adverse perinatal outcomes in newborns with open spina bifida.
International journal of gynaecology and obstetrics: the official organ of the International Federation of Gynaecology and ObstetricsTwo Nonsense GLI3 Variants Are Identified in Two Chinese Families With Polydactyly.
Molecular genetics & genomic medicineConcomitant omphalocele, craniorachischisis and ectopic cordis associated with trisomy 18 diagnosed in first trimester.
Taiwanese journal of obstetrics & gynecologyA Prospective Study of CSF Flow Dynamics Across Foramen Magnum in Adult Chiari Malformation/Syringomyelia Complex and its Clinical Correlation with Outcomes after Surgery.
Asian journal of neurosurgeryAssociações
Organizações que acompanham esta doença — pra ter apoio e orientação
Ainda não temos associações cadastradas para Hemimelia tibial - pé boto.
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Comunidades
Grupos ativos de quem convive com esta doença aqui no Raras
Ainda não existe comunidade no Raras para Hemimelia tibial - pé boto
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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.
- CTNNB1-related disorders: clinical and radiological contributions from a French cohort.
- Orthopedic manifestations and management of nail-patella syndrome: a narrative review.
- [Schwannomatosis diagnosed from an approximately 30-year history of multiple mononeuropathy accompanied by multiple cauda equina nodules: a case report].
- Preoperative physiotherapy rehabilitation of lower limb deformities secondary to meningomyelocele in mid-childhood.
- Characteristics of pediatric-onset anti-contactin1 antibody-associated autoimmune nodopathies with concomitant membranous nephropathy.
- HOXD12 a candidate gene for a novel form of synpolydactyly.
- Online Questions About Clubfoot Surgery: Content Analysis and Development of a Patient Education Resource.
- Effectiveness of a digital-based gradual exercise training program for preventing relapse in congenital clubfoot: a protocol for a randomized controlled clinical trial.
- Novel Pathogenic GCH1 Variant in Familial DOPA-Responsive Dystonia.
- Garceau Technique Requires Less Mechanical Work Than Modified Ponseti for Tibialis Anterior Tendon Transfer: A Biomechanical Study in Cadavers.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:199315(Orphanet)
- MONDO:0016046(MONDO)
- GARD:17093(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Q56013784(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
