Raras
Buscar doenças, sintomas, genes...
Hemimelia tibial - pé boto
ORPHA:199315CID-10 · Q66.8CID-11 · LB98.YDOENÇA RARA

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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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.

🏥
SUS: Cobertura mínimaScore: 15%
CID-10: Q66.8
🇧🇷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
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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
7 sintomas
😀
Face
5 sintomas
👂
Ouvidos
1 sintomas
🧬
Pele e cabelo
1 sintomas

+ 7 sintomas em outras categorias

Características mais comuns

Polidactilia em espelho do pé
Hipoplasia patelar
Hipertelorismo
Tíbia ausente
Pterígio poplíteo
Polidactilia pré-axial do pé
21sintomas
Sem dados (21)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 21 características clínicas mais associadas, ordenadas por frequência.

Polidactilia em espelho do péMirror image foot polydactyly
Hipoplasia patelarPatellar hypoplasia
HipertelorismoHypertelorism
Tíbia ausenteAbsent tibia
Pterígio poplíteoPopliteal pterygium

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Últimos 10 anos200publicações
Pico2025141 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

Genes associados

2 genes identificados com associação a esta condição.

Autosomal dominant
PITX1Pituitary homeobox 1Disease-causing germline mutation(s) inAltamente restrito
FUNÇÃO

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

LOCALIZAÇÃO

Nucleus

MECANISMO DE DOENÇA

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.

EXPRESSÃO TECIDUAL(Tecido-específico)
Esôfago - Mucosa
816.4 TPM
Vagina
305.4 TPM
Pituitária
298.8 TPM
Bladder
154.5 TPM
Glândula salivar
118.4 TPM
OUTRAS DOENÇAS (4)
clubfootfamilial clubfoot due to 5q31 microdeletionfamilial clubfoot due to PITX1 point mutationbrachydactyly-elbow wrist dysplasia syndrome
HGNC:9004UniProt:P78337
TBX4T-box transcription factor TBX4Candidate gene tested inAltamente restrito
FUNÇÃO

Transcriptional regulator that has an essential role in the organogenesis of lungs, pelvis, and hindlimbs

LOCALIZAÇÃO

Nucleus

MECANISMO DE DOENÇA

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.

EXPRESSÃO TECIDUAL(Tecido-específico)
Pulmão
54.1 TPM
Bladder
6.1 TPM
Próstata
5.3 TPM
Artéria tibial
4.7 TPM
Testículo
2.7 TPM
OUTRAS DOENÇAS (6)
coxopodopatellar syndromeautosomal recessive ameliafamilial clubfoot due to 17q23.1q23.2 microduplicationchromosome 17q23.1-q23.2 deletion syndrome
HGNC:11603UniProt:P57082

Variantes genéticas (ClinVar)

149 variantes patogênicas registradas no ClinVar.

🧬 TBX4: NM_001321120.2(TBX4):c.703-2A>G ()
🧬 TBX4: NM_001321120.2(TBX4):c.1100_1101dup (p.Phe368fs) ()
🧬 TBX4: NM_001321120.2(TBX4):c.281+2T>A ()
🧬 TBX4: NM_001321120.2(TBX4):c.730C>T (p.Pro244Ser) ()
🧬 TBX4: NM_001321120.2(TBX4):c.394A>C (p.Asn132His) ()
Ver todas no ClinVar

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 — 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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Publicações mais relevantes

Timeline de publicações
0 papers (10 anos)
#1

CTNNB1-related disorders: clinical and radiological contributions from a French cohort.

Frontiers in neurology2026

CTNNB1 monoallelic pathogenic variants account for up to 4% of genetically determined cerebral palsy cases, yet their phenotypic spectrum remains poorly defined. We retrospectively analyzed 25 individuals with pathogenic CTNNB1 variants using medical records and a questionnaire. Data included genetic variants, perinatal history, developmental milestones, behavioral characteristics, head growth, feeding, sleep difficulties, neurological and ophthalmological assessments. Brain MRIs were reviewed by expert neuroradiologists. Twenty-two distinct heterozygous variants were identified. Microcephaly occurred in 16/22 patients. All exhibited global developmental delay, independent walking was achieved at a mean age of 2.1 years, with regression in 4/16 independent walkers. Behavioral disorders were frequent, as were oral sensorimotor disorders (21/25) and sleep disturbances (13/21). Lower limb hypertonia was present in 22/25 patients [spastic (8) and/or dystonic (11)]. Unstable gait were common among ambulatory patients. Exaggerated startle reactions, often since birth, were reported in 16/21. Exudative vitreoretinopathy was identified in 3/5 patients with retinal angiography. Brain MRI (19 patients) showed: thickening of anterior commissure (8), frontal lobe hypoplasia (9), widening of superior vermian sulci (10) and corpus callosum anomalies (7). This study broadens the spectrum of CTNNB1-related syndrome, reporting a complex motor phenotype combining (i) gait disturbances related to dystonic or non-dystonic hypertonia and unsteadiness, sometimes associated to dystonia in other body parts (ii) possible deterioration of motor achievements over the course of the disease (iii) an exaggerated startle reflex. New non-specific brain anomalies are precisely described. Our work underscores the need for registries and longitudinal studies to refine characterization and guide future therapies.

#2

Orthopedic manifestations and management of nail-patella syndrome: a narrative review.

Frontiers in pediatrics2026

Nail-patella syndrome (NPS) is a rare autosomal dominant disorder characterized by skeletal and renal abnormalities. Diagnosis is primarily clinical, based on four main features: nail dysplasia, patellar and elbow abnormalities, and the presence of iliac horns. NPS affects approximately 1 in 50,000 individuals. Its presentation is highly heterogeneous, even within families, which may delay recognition. Pathogenic variants have been identified in the LMX1B gene located on chromosome 9q34. Although best known for its orthopedic manifestations, NPS may also involve other systems, notably the kidneys and eyes, leading to nephropathy or glaucoma that can progress to severe morbidity. Clinical features may be apparent from birth but will evolve over the life course, thus highlighting the need for long-term monitoring. Management requires a multidisciplinary approach, with orthopedics playing a central role. Surgical decisions, particularly for lower-limb pathology, is individualized and guided by symptom burden and functional impairment. This narrative review summarizes the current literature on NPS, including its epidemiology, etiopathogenesis, clinical manifestations, and natural history. It reviews diagnostic challenges based on clinical and radiologic features. Finally, it critically appraises reported surgical management strategies, with particular emphasis on knee pathology and associated complications, with aims to guide current clinicians.

#3

[Schwannomatosis diagnosed from an approximately 30-year history of multiple mononeuropathy accompanied by multiple cauda equina nodules: a case report].

Rinsho shinkeigaku = Clinical neurology2026 Feb 25

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.

#4

Preoperative physiotherapy rehabilitation of lower limb deformities secondary to meningomyelocele in mid-childhood.

BMJ case reports2026 Jan 19

Meningomyelocele is a congenital defect resulting from the incomplete closure of the neural tube during embryonic development, making it the most common structural birth anomaly of the central nervous system. Over time, these deformities can progress to the knee and ankle joints due to the development of contractures. In addition, rotational deformities of the lower extremities are also seen. This study outlines a mid-childhood female with a complaint of fixed knee flexion and a spastic equinovarus deformity that has been affecting her walking and performing activities of daily living for the past 8 years. She had a history of operated meningomyelocele closure surgery and subsequent ventriculoperitoneal shunt surgery for hydrocephalus in situ at the age of 1 year old. Preoperative physiotherapy management was prescribed to educate, rehabilitate and minimise complications associated with postoperative rehabilitation and to minimise dependency for daily living activities, which will further improve quality of life.

#5

Characteristics of pediatric-onset anti-contactin1 antibody-associated autoimmune nodopathies with concomitant membranous nephropathy.

BMC pediatrics2026 Jan 16

Anti-contactin-1 antibody-associated autoimmune nodopathy (CNTN1-AN) is a rare disorder predominantly affecting older individuals, characterized by sensorimotor peripheral neuropathy, with over 50% of cases presenting with proteinuria and membranous nephropathy (MN). Pediatric-onset CNTN1-AN is exceptionally rare, and its clinical profile remains poorly characterized. We report a pediatric case of CNTN1-AN with MN and conduct a literature review to elucidate the pathogenesis and clinical features of CNTN1-AN combined with MN in children. The patient, an 11-year-old girl, presented with a one-month history of progressive lower limb weakness and a 10-day progression of gait instability. Physical examination demonstrated bilateral proximal lower limb weakness, restricted mobility, and sensory abnormalities.No facial or limb edema or frothy urine was observed. Elevated anti-CNTN1 antibody titers were detected in both serum (1:320) and cerebrospinal fluid (CSF) (1:3.2). Urinalysis showed significant proteinuria (4+). Electromyography (EMG) indicated peripheral nerve involvement, and lumbosacral and brachial plexus magnetic resonance imaging (MRI) demonstrated nerve root edema and thickening. Renal biopsy confirmed stage I MN, establishing the diagnosis of CNTN1-AN with MN. Following prednisone and rituximab therapy, motor function improved, though renal progression persisted. A comprehensive literature review identified six confirmed pediatric CNTN1-AN cases globally. Including the current case, renal involvement was observed in 3/7 pediatric cases, with MN confirmed in two. Comparative analysis indicates that CNTN1-AN manifests similarly across pediatric and adult populations, though pediatric cases demonstrate potentially lower incidence rates. Pediatric CNTN1-AN exhibits a low incidence, requiring ongoing renal function monitoring in affected cases. In CNTN1-AN with MN, neurological symptoms respond well to low-dose rituximab, whereas renal manifestations often require intensified regimens. The mechanisms linking CNTN1-AN and MN remain elusive, highlighting the need for further studies to optimize rituximab therapeutic protocols. [Image: see text]

Publicações recentes

Ver todas no PubMed

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2026

Treatment of Idiopathic Congenital Clubfoot in a Public Health Service: Comparison Between Ankle-Foot Orthosis and Abduction Orthosis.

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Tailored Charles' Procedure and Vascularized Lymph Node Transfer for Advanced Stage Klippel-Trenaunay Syndrome.

Acta chirurgica Belgica
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Femoral Distraction Osteogenesis in Fibular Hemimelia: Risks and Advantages Using Magnetically Driven Antegrade Intramedullary Lengthening Nails.

The Journal of the American Academy of Orthopaedic Surgeons
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Association of trunk sway and gait-cycle variability measured by triaxial accelerometry with heart rate-based walking efficiency in patients with mild hemiparesis.

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Characterization of the progressive neuroaxonal dystrophy and subsequent gait abnormalities in the Hspa8V95E knock-in rats.

Veterinary pathology
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Multiparametric MRI analysis of clinical outcome after hematopoietic stem cell transplantation in juvenile Metachromatic Leukodystrophy.

AJNR. American journal of neuroradiology
2026

"Global Developmental Indicators Associated with the Burden of Congenital Limb and Musculoskeletal Anomalies".

Plastic and reconstructive surgery
2026

Syndactyly and Risk of Cancer.

Hand (New York, N.Y.)
2026

CTNNB1-related disorders: clinical and radiological contributions from a French cohort.

Frontiers in neurology
2026

HOXD12 a candidate gene for a novel form of synpolydactyly.

Bone
2026

Point prevalence of motor neuropathy in children and adolescents with type 1 diabetes mellitus.

Journal of diabetes and metabolic disorders
2026

Twin paradox: Monoamniotic twin pregnancy discordant for limb body wall complex: Presentation of a rare syndrome with a review of embryology.

Ultrasound (Leeds, England)
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)
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A New Case of PITX1-Related Mandibular-Pelvic-Patellar (MPP) Syndrome.

Clinics and practice
2026

MDSGene Systematic Review of Common Forms of Dominant Hereditary Spastic Paraplegia: Novel Insights.

Movement disorders clinical practice
2026

Orthopedic manifestations and management of nail-patella syndrome: a narrative review.

Frontiers in pediatrics
2026

Radiographic Predictors of Excessive Lower Limb Torsion in Patients With Recurrent Patellar Dislocation.

Orthopaedic journal of sports medicine
2026

Leg Length Discrepancy in Patients With Lower Extremity Cutis Marmorata Telangiectatica Congenita: A Multicenter Retrospective Study.

Pediatric dermatology
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An Unusual Case of Acquired Dilated Cardiomyopathy Due to Long-Standing Patent Ductus Arteriosus.

Cureus
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Foot Drop Caused by an Intraneural Ganglion Cyst: A Case Report.

Cureus
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Can Patients Self-Identify Gait Disturbances After Lower Extremity Trauma? Enhancing Patient Engagement in Their Care.

Journal of clinical medicine
2026

Positive association of lipoprotein(a) and the prevalence of lower extremity arterial disease in MASLD: a cross-sectional study.

BMC cardiovascular disorders
2026

[Compound heterozygous plasminogen mutations causing hereditary plasminogen deficiency: a family study and mechanistic analysis].

Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi
2026

Foot arch morphology and lower-limb biomechanical characteristics in university students: a cross-sectional multifactorial analysis of 1,078 participants.

Scientific reports
2026

Asymmetrical Patellofemoral Joint Loading Persists Through Return to Sport After Anterior Cruciate Ligament Reconstruction in Adolescent Athletes.

Journal of sport rehabilitation
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Detection of Subclinical Diabetic Neuropathy in Type 2 Diabetes: A Study of Nerve Conduction Parameters and Their Associations With Metabolic and Demographic Factors.

Cureus
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Severe Hypercalcemia Revealing Acute Lymphoblastic Leukemia: A Case Report.

Cureus
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Multilevel Laminectomy for Lumbar Spinal Stenosis With Low Back Pain in Achondroplasia: A Case Report.

The American journal of case reports
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Poor Prognostic Factors in Surgically Treated Habitual Patellar Dislocation in Children and Adolescents.

Children (Basel, Switzerland)
2026

Deficits in dynamic stability revealed by the Y-Balance test in middle-aged and elderly adults with patellofemoral pain.

Journal of orthopaedic surgery and research
2026

A study on the diagnostic value and classification of sirenomelia by prenatal ultrasonography.

BMC pregnancy and childbirth
2026

[Schwannomatosis diagnosed from an approximately 30-year history of multiple mononeuropathy accompanied by multiple cauda equina nodules: a case report].

Rinsho shinkeigaku = Clinical neurology
2025

Sirenomelia With Complete Caudal Regression in a Preterm Infant Born to a Mother With Poorly Controlled Type 1 Diabetes Mellitus: A Case Report on Clinical Presentation and Perinatal Management Challenges.

Cureus
2026

Preoperative physiotherapy rehabilitation of lower limb deformities secondary to meningomyelocele in mid-childhood.

BMJ case reports
2026

Persistent Sciatic Artery as a Rare Cause of Sciatic Neuropathy: A Case Report.

Journal of the peripheral nervous system : JPNS
2026

Explainable deep learning-based multiclass classification of foot radiographs into normal, plantar fasciitis, and flatfoot.

Clinical imaging
2026

Characteristics of pediatric-onset anti-contactin1 antibody-associated autoimmune nodopathies with concomitant membranous nephropathy.

BMC pediatrics
2026

Effect of Lower Limb Alignment and Corrective Osteotomy on Clinical Outcomes After Matrix-Associated Autologous Chondrocyte Implantation for Extensive Cartilage Defects of the Knee.

Orthopaedic journal of sports medicine
2026

Prevalence and management of lower limb segmental overgrowth in patients with NF1: an observational study.

Orphanet journal of rare diseases
2026

Online Questions About Clubfoot Surgery: Content Analysis and Development of a Patient Education Resource.

Journal of the Pediatric Orthopaedic Society of North America
2026

Postexercise muscle oxygen uptake kinetics in older breast cancer survivors and healthy individuals: Association with myosteatosis.

Experimental physiology
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Heterotaxy syndrome: a rare risk factor for a pulmonary embolism in a young person.

Proceedings (Baylor University. Medical Center)
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Contribution of binocular visual function and its impairment by Bangerter foils to the performance of a precision reaching, grasping and placing task in healthy adults.

Frontiers in neuroscience
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Whole-Body Pattern of Muscle Degeneration and Progression in Sarcoglycanopathies.

Annals of clinical and translational neurology
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Results of dedicated venous nitinol stents in treating chronic inferior vena cava occlusions.

Journal of vascular surgery. Venous and lymphatic disorders
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Right Forearm Arteriovenous Malformation with Dual Osseous Remodeling: Hyperostosis and Erosion of Ulna and Radius.

Annals of African medicine
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Beyond CKD-Associated Pruritus: Paraneoplastic Itch Revealing CLL/SLL in ESRD: A Case Report.

The American journal of case reports
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Obstetrical, perinatal, and children's health outcomes following fresh embryo transfer after extended embryo culture.

Human reproduction (Oxford, England)
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A Simple Restriction, a Complex Collapse: Multisystem Wernicke Encephalopathy Triggered by Self-Starvation.

Cureus
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Clinical presentation, risk factors, and comorbidities of cutis marmorata telangiectatica congenita: a systematic review.

Pediatric research
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Bone Fragility and Fracture Characteristics in Patients With Spinal and Bulbar Muscular Atrophy.

European journal of neurology
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Multimodal Data and Deep Learning-Driven Diagnostic and Therapeutic Assistance Framework for Patellar Dislocation.

Annual International Conference of the IEEE Engineering in Medicine and Biology Society. IEEE Engineering in Medicine and Biology Society. Annual International Conference
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Decision-Making and Downstream Outcomes of the Gabapentinoid-Diuretic Prescribing Cascade.

JAMA network open
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From Caudal Regression to Wieacker-Wolff Syndrome: The Decisive Role of Postmortem Examination and Exome Sequencing in Revising a Prenatal Diagnosis.

Cureus
2025

The effectiveness of self-efficacy enhancement for foot care program on HbA1c and foot status in people with type 2 diabetes in Thailand: A quasi-experimental study.

Belitung nursing journal
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A rare case of LORICRIN gene c.684dup mutation associated with Vohwinkel syndrome in a Turkish patient, in silico analysis and literature review.

Molecular biology reports
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Ultrasound Evaluation of Plantar Fascia in Individuals with Charcot-Marie-Tooth Disease: An Exploratory Study.

Life (Basel, Switzerland)
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A case of levofloxacin injection-induced lower limb edema.

Naunyn-Schmiedeberg's archives of pharmacology
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Case Report: Diagnostic challenges and therapeutic approaches in cardiac intimal sarcoma: a rare clinical case study.

Frontiers in cardiovascular medicine
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A rare case report of acute severe hypokalemia induced by monosialotetrahexosylganglioside therapy.

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Postoperative rehabilitation in a patient with Proteus syndrome following scoliosis surgery: A case report.

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Spigelian hernia in children: A systematic review.

World journal of clinical pediatrics
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POEMS syndrome complicated by portal hypertension resembling decompensated cirrhosis: a case report and diagnostic insights.

Frontiers in medicine
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Effectiveness of a digital-based gradual exercise training program for preventing relapse in congenital clubfoot: a protocol for a randomized controlled clinical trial.

BMC pediatrics
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Association Between Chronic Pain and Jumping-to-Conclusions Behaviour.

Pain research & management
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Novel Pathogenic GCH1 Variant in Familial DOPA-Responsive Dystonia.

Neuropediatrics
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Heavy alcohol use exacerbates skeletal myopathy in peripheral artery disease.

GeroScience
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[Combined physician-modified fenestration and inner branch techniques for aortic pathology with aberrant subclavian artery].

Zhonghua wai ke za zhi [Chinese journal of surgery]
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Atrio-Ventricular Nodal Block Associated with Methamphetamine Use.

The American journal of case reports
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Preoperative Virtual Planning Combined with 3D-Printed Surgical Guide Technology for Correction of Shepherd's Crook Deformity: A Case Report.

The American journal of case reports
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Diabetic distal symmetric polyneuropathy: More than just "tingling in the feet".

Diabetes, obesity & metabolism
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Myelomeningocele in a newborn with VACTERL association.

Archivos argentinos de pediatria
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Patellofemoral Joint Anatomy Is Associated With Landing Mechanics After Operative Treatment for Patellar Instability.

Orthopaedic journal of sports medicine
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Spina bifida, diplomyelia, and Chiari-like malformation in an Aberdeen Angus calf.

BMC veterinary research
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Garceau Technique Requires Less Mechanical Work Than Modified Ponseti for Tibialis Anterior Tendon Transfer: A Biomechanical Study in Cadavers.

Clinical orthopaedics and related research
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Case Report: 3 cases of abdominal lesions with lower limb lymphedema-rare mutations in complex lymphatic anomalies.

Frontiers in oncology
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Characteristics of knee rotational alignment and related factors in patients with knee osteoarthritis: A case - control study.

Medicine
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PIGMENTED VILLONODULAR SYNOVITIS IN THE ANKLE OF A PEDIATRIC PATIENT: A CASE REPORT.

Georgian medical news
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Prenatal diagnosis and management challenges of Pentalogy of Cantrell at term in a resource-constrained setting: A rare case report.

International journal of surgery case reports
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A Multicenter Retrospective Study of Epidemiological Trends in Benign Acute Childhood Myositis Before and After the COVID-19 Pandemic.

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ZMIZ1-Associated Neurodevelopmental Disorder in a 52-Year-Old Woman.

American journal of medical genetics. Part A
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Persistent neuromuscular disorders associated with changes in tibialis anterior and gastrocnemius lateralis muscle architecture in long-covid: an observational longitudinal study.

Scientific reports
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Nationwide Characterization of MFN2-Related CMT in 176 Japanese Patients: Clinical and Genetic Insights.

Annals of clinical and translational neurology
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Identification and Functional Verification of Variants Associated With Clubfoot and Arthrogrypotic Hand Deformation in a Multigeneration Polish Family.

Annals of human genetics
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Surgical management of ectrodactyly-associated foot deformity in a child: a case report.

Journal of medical case reports
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Lymphedema is a rare manifestation of lymphoma: A case series and literature review.

Oncology letters
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Hope Walks: The Impact of Clubfoot Treatment on Human Flourishing in Ethiopia.

Health economics
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Association between metabolic syndrome, its individual components and progression of amyotrophic lateral sclerosis.

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Human T-Lymphotropic Virus Type 1-Associated Myelopathy With Autoimmune Cholangiopathy: An Unusual Immune Conundrum in a Young Patient.

Case reports in infectious diseases
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Severe lumbosacral polyradiculopathy secondary to micronutrient deficiencies in a patient on semaglutide therapy following bariatric surgery.

Endocrinology, diabetes & metabolism case reports
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Femoral, Hip, and Pelvic Anomalies in Tibial Deficiency and Their Impact on Treatment.

Journal of pediatric orthopedics
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IgG4-related disease presenting with retroperitoneal fibrosis and hypertrophic spinal pachymeningitis: a rare case report and literature review.

Frontiers in immunology
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Case Report: Integrated traditional Chinese and Western medicine in the outpatient management of diabetic foot gangrene complicating uremia.

Frontiers in endocrinology
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An Unnoticed Femoral Condyle Deformity in Transverse Plane Is Associated With Knee Valgus in Patients With Unilateral Developmental Dysplasia of the Hip.

Orthopaedic surgery
2026

Proximal tibial osteotomy for frontal plane deformities correction.

Orthopaedics & traumatology, surgery & research : OTSR
2025

Dual diagnosis at the neuro-immune interface: a case report of neuronal intranuclear inclusion disease with acute anti-CASPR2 encephalitis.

Frontiers in immunology
2025

Hyponatremia and rhabdomyolysis from excessive water intake for ureteral stone expulsion in a patient with mental disorder: A case report.

Medicine
2025

MRI-Negative Transverse Myelitis Revealing Seropositive Rheumatoid Arthritis in a Young Woman.

Cureus
2025

De Novo GLI2 Missense Variant in a Child With Isolated Hypopituitarism and Craniofacial Anomalies: Expanding the Phenotypic Spectrum.

Molecular genetics & genomic medicine
2025

[Multi-system involvement characteristics and influencing factors of disease progression in Kennedy's disease].

Zhonghua nei ke za zhi
2025

Inherited thrombophilia in a Han Chinese family caused by prothrombin Ile441Met mutation.

Research and practice in thrombosis and haemostasis
2025

Two Cases of Charcot-Marie-Tooth Disease Diagnosed in a 53-Year-Old Mother and a 24-Year-Old Daughter.

The American journal of case reports
2025

Selective muscle MRI changes in a patient with a rare mitochondrial DNA variant causing myoclonic epilepsy with ragged red fibres.

Neuromuscular disorders : NMD
2025

The Intersection of Genitopatellar Syndrome and Oral Health: A Case Report at Saudi Arabia.

Case reports in dentistry
2025

Central Pontine Myelinolysis in a Patient with Alcohol Use Disorder without Hyponatremia: A Case Report.

The American journal of case reports
2025

Association between pediatric obesity and foot morphology: insights from a large-scale cross-sectional study using photogrammetry.

BMC pediatrics
2025

High-Density Lipoprotein-Associated Cholesterol Abnormalities in a Clinical Outcomes Study of Dysferlin-Deficient Limb-Girdle Muscular Dystrophy Type R2.

Journal of cachexia, sarcopenia and muscle
2025

Clinical Features of Gollop-Wolfgang Complex in North Africa: A Case Study.

Cureus
2026

MAX-Related Disorder: Expanding the Phenotype of the Recurrent p.Arg60Gln Variant.

American journal of medical genetics. Part A
2025

Foot Pressure-Based Abnormal Gait Recognition With Multi-Scale Cross-Attention Fusion.

IEEE transactions on neural systems and rehabilitation engineering : a publication of the IEEE Engineering in Medicine and Biology Society
2025

Posterior Decompression and Arthrodesis in Congenital Atlantoaxial Subluxation and Associated Complex Vertebral Artery Anomaly: A Case Report.

Journal of orthopaedic case reports
2025

Melorheostosis: A Rare Case Report with Pelvic and Lumbar Involvement.

Journal of orthopaedic case reports
2025

Recurrent pathological fractures in chronic kidney disease revealing overlapping neglected primary hyperparathyroidism and GDF5-associated skeletal dysplasia.

Archives of osteoporosis
2025

Charting the genetic landscape of autosomal recessive hereditary spastic paraplegia: A deep dive into 10 exceptionally rare cases.

Neurogenetics
2025

First case report of a unique combination of congenital limb and skeletal anomalies mimicking VACTERL and Gollop-Wolfgang syndromes.

International journal of surgery case reports
2025

Beware of the Pediatric Limp: A Case of Mycoplasma Associated Acute Transverse Myelitis.

Journal of education & teaching in emergency medicine
2025

Bilateral Unfused Medial Process of Calcaneal Apophysis associated with Lower Extremity Malalignment: A Case Report.

Current medical imaging
2025

Genetics, epidemiology and management of clubfoot and related disorders.

Genes & diseases
2025

Epidemiological profiles and intervention strategies of limb deformities in China: A nationwide study based on the largest orthopedic database in China.

Journal of orthopaedic translation
2025

Occult tethered cord syndrome: insights into clinical and MRI features, prognostic factors, and treatment outcomes in 30 dogs with confirmed or presumptive diagnosis.

Frontiers in veterinary science
2025

Gait Profile Score and its correlation with clinical outcomes in individuals with diabetic neuropathy: A cross-sectional study with 102 patients.

Gait & posture
2025

Patient-Reported Outcomes and Scar Assessment of Dorsal Omega Flap in Congenital Syndactyly Correction.

The journal of hand surgery Asian-Pacific volume
2025

Isolated clubfoot in the Northern Territory of Australia: birth prevalence and population description.

International journal of epidemiology
2025

Neurofibromatosis Type 1 with Relapsed/Refractory Precursor B-Lymphoblastic Lymphoma: Case Report and Literature Review.

Case reports in oncology
2025

The impact of mental and psychological state on metatarsophalangeal joint replacement outcomes in patients with freiberg's infraction.

Journal of orthopaedic surgery and research
2025

Nondiabetic Ketoacidosis in a Patient With Spinal Muscular Atrophy Type II.

AACE endocrinology and diabetes
2026

Regional Infantile Hemangiomas Associated With Raynaud Phenomenon.

Pediatric dermatology
2026

Risk Factors for Nonunion After Femoral Rotational Osteotomy for Idiopathic Anteversion and Retroversion in Adolescents.

Journal of pediatric orthopedics
2026

Short-term Squatting Mechanics After Arthroscopic Treatment for Femoroacetabular Impingement in Adolescents.

Clinical orthopaedics and related research
2025

Impact of Lower-Extremity Muscle Strength on Exercise Capacity in Patients With Cardiovascular Disease and Diabetes Mellitus.

Journal of cardiopulmonary rehabilitation and prevention
2025

ZASP/LDB3-related atypical distal myopathy with subtle cardiac impairment unveiled after COVID-19 infection: a short report.

Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology
2025

Partial anomalous pulmonary venous return: diagnostic challenges and successful correction in a patient with progressive pulmonary hypertension.

BMJ case reports
2025

Pulmonary Arterial Hypertension Onset in an Adult Woman With a TBX4 Likely Pathogenic Variant Following Imatinib Administration: A Case Report.

American journal of medical genetics. Part A
2025

Thoracic Spinal Cord Compression Precipitated by Epidural Steroid Injection Due to Undiagnosed Dural Arteriovenous Fistula - A Case Report.

Pain medicine case reports
2025

Syndromic gingival fibromatosis associated with pathogenic variation in the voltage-gated potassium channel gene KCNH1: a case report and proposed treatment protocol.

BMC oral health
2025

Right lower limb lymphatic aplasia in lymphoscintigraphy: a case report.

Journal of medical case reports
2025

Evaluating plantar correction strategies in pediatric growing pains: a postural and pain analysis in 647 children.

Journal of medicine and life
2025

Association of miR-938 rs2505901 T > C polymorphism with reduced risk of venous malformations in a Chinese population.

Scientific reports
2025

Myelin oligodendrocyte glycoprotein antibody-associated disease with aseptic meningitis-like presentation in a paediatric patient.

BMJ case reports
2026

Diabetic Peripheral Neuropathy: A Clinical Study Correlating Peripheral Neuropathy with Dyslipidemia and Nerve Conduction Velocity Study in Diabetics.

Annals of African medicine
2025

Computed Tomography Imaging Characteristics in the Diagnosis and Assessment of Cellulitis in Patients with Leg Swelling.

Medicina (Kaunas, Lithuania)
2025

Evaluation of Sensory and Motor Function in Spinal and Bulbar Muscular Atrophy Using Quiet Stance and Reactive Postural Control.

Neurology international
2025

Life's first challenge: Exploring wrist necrosis accompanied by feet deformity in a newborn from umbilical cord torsion; a case report study.

International journal of surgery case reports
2025

Electrophysiological findings for peripheral nerves of lower limb in women with stress urinary incontinence and non-specific low back pain.

Scientific reports
2025

Case Report: Achieving ankle joint stability through early intervention in an 8-year-old with congenital fibular hemimelia.

Frontiers in pediatrics
2025

A Case of Synovitis Acne Pustulosis Hyperostosis Osteitis (SAPHO) Syndrome With Myeloperoxidase Anti-neutrophil Cytoplasmic Antibody: Exploring an Association or Coincidence.

Cureus
2025

The Hidden Hazard of Hypothyroidism: Statin-Associated Rhabdomyolysis With Life-Threatening Complications.

Cureus
2025

Syndromic capillary malformation with leg length discrepancy: Parkes-Weber syndrome treated by embolization, chemotherapy and Ilizarov technique.

Hereditas
2025

Prevalence and trends of major congenital anomalies in Brazil: A study from 2011 to 2020.

PloS one
2025

A type II proatlantal artery arising from the external carotid artery: A review of neurovascular anatomy.

Surgical neurology international
2025

French experience in the management of fibular hemimelia: Radiographic and functional outcomes.

Orthopaedics & traumatology, surgery & research : OTSR
2025

Successful Management of Pregnancy in a Patient With Fabry Disease Receiving Continuous Enzyme Replacement Therapy: A Case Report and Literature Review.

Cureus
2024

Unexplained Multi-Site Thrombosis: A Step-by-Step Strategy for Factor V Leiden Detection in a Hypercoagulable Patient.

The journal of Tehran Heart Center
2025

Combined Distal Femoral Osteotomy and Medial Patellofemoral Ligament Reconstruction for Patellar Instability and Genu Valgus: A Case Report and Literature Review.

Orthopaedic surgery
2025

Chasing Highs, Experiencing Lows: A Case of Hypokalemia Associated With Cannabis Use.

Cureus
2025

Femoral Trochlear Dysplasia Is Common in Lower Limbs With Hartofilakidis C2 Hip Dysplasia.

Clinical orthopaedics and related research
2024

Prenatal Counseling for Congenital Clubfoot.

Journal of the Pediatric Orthopaedic Society of North America
2025

Characterization of Secondary Health Conditions Among United States Service Members with Combat-Related Lower Extremity Limb Salvage.

Journal of clinical medicine
2025

Evaluating the Accuracy, Clarity, and Safety of Artificial Intelligence-Generated Information on Clubfoot.

The Journal of the American Academy of Orthopaedic Surgeons
2024

When Giant Lymphangioma Meets Hydrops Fetalis: An Uncommon Case Report of Lower Extremity Involvement.

Maternal-fetal medicine (Wolters Kluwer Health, Inc.)
2025

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 reports
2025

A new association between Kleefstra syndrome and Panayiotopoulos epilepsy.

Italian journal of pediatrics
2025

Structural brain correlates of balance control in children with cerebral palsy: baseline correlations and effects of training.

Brain structure & function
2025

Isolated scleroderma of the lower extremities misdiagnosed as lymphedema and presenting with scleroderma renal crisis.

Journal of scleroderma and related disorders
2025

Beyond EDSS: multidomain impairments are detectable and associated with walking disorders in low-disabled people with multiple sclerosis.

Journal of neurology
2025

Critical Anatomic Variants in Peripheral Artery Disease Interventions.

Seminars in interventional radiology
2025

Prenatal diagnosis and management of desbuquois dysplasia type 1 due to CANT1 mutation: A case report.

Taiwanese journal of obstetrics & gynecology
2025

Fatal spontaneous spinal subdural hematoma in a patient on anticoagulant therapy.

Journal of forensic sciences
2025

Successful Treatment of a Chronic Venous Ulcer Caused by an Undiagnosed Arteriovenous Fistula: A Case Report.

Annals of plastic surgery
2025

Chronic Quadriceps Tendon Rupture-Surgical Treatment and Outcomes: A Systematic Review.

The journal of knee surgery
2025

The incomplete cloaca and Bardet-Biedl syndrome: A remarkable association with broader implications on patient's care.

Journal of pediatric urology
2025

Functional accessory limb arising from the buttock: a case report.

BMC pediatrics
2025

Core diagnostic features of stiff person syndrome: insights from a case-control study.

Journal of neurology
2025

Concurrent Acute Limb Ischemia and Pulmonary Embolism in an Adult With Repaired Tetralogy of Fallot: A Case Report.

Cureus
2025

Occurrence of Malformations of the Upper Extremity in Tibial Hemimelia: Correlation with the Jones Classification.

Indian journal of orthopaedics
2025

Physical Therapy Management of the First-Time Patellar Instability Event.

Video journal of sports medicine
2025

Knee torsion predicts the preoperative J-sign grade in patients with recurrent patellar dislocation : a prospective study.

The bone & joint journal
2025

Bilateral postoperative lumbosacral plexopathy: A case report.

International journal of surgery case reports
2025

Kabuki Syndrome With Cardiac Manifestations: A Case Report and Mini-Literature Review From the United Arab Emirates (UAE).

Cureus
2025

Bilateral Persistent Sciatic Veins: A Cadaveric Case Report.

The Kurume medical journal
2025

The functional popliteal angle test can detect features of hamstring spasticity.

Clinical biomechanics (Bristol, Avon)
2025

Keloid formation after congenital toe syndactyly release is associated with preoperative toe hypertrophy: A retrospective observational clinical study.

Journal of plastic, reconstructive & aesthetic surgery : JPRAS
2025

Age-dependent brain subcortical white and gray matter disruptions in patients with posttraumatic stress disorder.

Anatomy & cell biology
2025

Correlation Between Socioeconomic Status and Brace Compliance in Idiopathic Clubfoot Deformities.

Cureus
2025

The prevalence and characteristics of polydactyly in neonates: A retrospective study of two tertiary hospitals in Saudi Arabia.

Congenital anomalies
2025

Comparative Study of Structural and Functional Rearrangements in Skeletal Muscle Mitochondria of SOD1-G93A Transgenic Mice at Pre-, Early-, and Late-Symptomatic Stages of ALS Progression.

Frontiers in bioscience (Landmark edition)
2024

IVCA in a Boy with Multilocular Renal Cyst as a Risk Factor for Deep Vein Thrombosis.

Journal of mother and child
2025

Stickler syndrome: associated musculoskeletal manifestations and first population-based incidence.

Journal of pediatric orthopedics. Part B
2025

Dopa 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 Neurophysiology
2025

The 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 Paulo
2025

Body 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 Association
2025

Unilateral amelia with limb deformities and multiple congenital malformations in a newborn: a case report from Palestine.

Annals of medicine and surgery (2012)
2025

Ulnar Longitudinal Deficiency with Postaxial Polydactyly: A Case Report.

JBJS case connector
2025

Case Report: Prepubertal-type testicular teratoma with local metastasis in a postpubertal patient.

Frontiers in oncology
2025

Prenatal 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 Obstetrics
2025

Two Nonsense GLI3 Variants Are Identified in Two Chinese Families With Polydactyly.

Molecular genetics & genomic medicine
2025

Concomitant omphalocele, craniorachischisis and ectopic cordis associated with trisomy 18 diagnosed in first trimester.

Taiwanese journal of obstetrics & gynecology
2025

A 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 neurosurgery

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Doenças relacionadas

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Referências e fontes

Bases de dados externas citadas neste artigo

Publicações científicas

Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.

  1. CTNNB1-related disorders: clinical and radiological contributions from a French cohort.
    Frontiers in neurology· 2026· PMID 41789168mais citado
  2. Orthopedic manifestations and management of nail-patella syndrome: a narrative review.
    Frontiers in pediatrics· 2026· PMID 41716707mais citado
  3. [Schwannomatosis diagnosed from an approximately 30-year history of multiple mononeuropathy accompanied by multiple cauda equina nodules: a case report].
    Rinsho shinkeigaku = Clinical neurology· 2026· PMID 41565301mais citado
  4. Preoperative physiotherapy rehabilitation of lower limb deformities secondary to meningomyelocele in mid-childhood.
    BMJ case reports· 2026· PMID 41554615mais citado
  5. Characteristics of pediatric-onset anti-contactin1 antibody-associated autoimmune nodopathies with concomitant membranous nephropathy.
    BMC pediatrics· 2026· PMID 41545850mais citado
  6. HOXD12 a candidate gene for a novel form of synpolydactyly.
    Bone· 2026· PMID 41786235recente
  7. Online Questions About Clubfoot Surgery: Content Analysis and Development of a Patient Education Resource.
    J Pediatr Soc North Am· 2026· PMID 41510490recente
  8. Effectiveness of a digital-based gradual exercise training program for preventing relapse in congenital clubfoot: a protocol for a randomized controlled clinical trial.
    BMC Pediatr· 2025· PMID 41250053recente
  9. Novel Pathogenic GCH1 Variant in Familial DOPA-Responsive Dystonia.
    Neuropediatrics· 2026· PMID 41237817recente
  10. Garceau Technique Requires Less Mechanical Work Than Modified Ponseti for Tibialis Anterior Tendon Transfer: A Biomechanical Study in Cadavers.
    Clin Orthop Relat Res· 2026· PMID 41099559recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:199315(Orphanet)
  2. MONDO:0016046(MONDO)
  3. GARD:17093(GARD (NIH))
  4. Variantes catalogadas(ClinVar)
  5. Busca completa no PubMed(PubMed)
  6. 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

Hemimelia tibial - pé boto
Compêndio · Raras BR

Hemimelia tibial - pé boto

ORPHA:199315 · MONDO:0016046
CID-10
Q66.8 · Outras deformidades congênitas do pé
CID-11
Início
Infancy, Neonatal
MedGen
UMLS
C5680522
Wikidata
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