Raras
Buscar doenças, sintomas, genes...
Deformidades congênitas dos membros
ORPHA:294944CID-10 · M21DOENÇA RARA

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.

Mantido por Agente Raras·Colaborar como especialista →

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.

Publicações científicas
246 artigos
Último publicado: 2025 Jun 9
🏥
SUS: Cobertura mínimaScore: 20%
Centros em: PA, PE, BA, CE, PB +10CID-10: M21
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Entender a doença

Do básico ao detalhe, leia no seu ritmo

Preparando trilha educativa...

Sinais e sintomas

O que aparece no corpo e com que frequência cada sintoma acontece

Partes do corpo afetadas

🦴
Ossos e articulações
2 sintomas
💪
Músculos
2 sintomas
🫃
Digestivo
1 sintomas
🧬
Pele e cabelo
1 sintomas

+ 11 sintomas em outras categorias

Características mais comuns

Dor no tornozelo
Calcâneo equino
Pé valgo
Artrite
Mielomeningocele
Anormalidade do sistema nervoso
17sintomas
Sem dados (17)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 17 características clínicas mais associadas, ordenadas por frequência.

Dor no tornozeloAnkle pain
Calcâneo equinoEquinus calcaneus
Pé valgoPes valgus
ArtriteArthritis
MielomeningoceleMyelomeningocele

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa4desde 2022
Total histórico246PubMed
Últimos 10 anos200publicações
Pico2025154 papers
Linha do tempo
2022Hoje · 2026🧪 1994Primeiro ensaio clínico📈 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

1 gene identificado com associação a esta condição.

HOXD10Homeobox protein Hox-D10Disease-causing germline mutation(s) inTolerante
FUNÇÃO

Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis

LOCALIZAÇÃO

Nucleus

MECANISMO DE DOENÇA

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.

EXPRESSÃO TECIDUAL(Tecido-específico)
Útero
103.7 TPM
Cervix Ectocervix
52.6 TPM
Vagina
52.0 TPM
Cólon sigmoide
36.6 TPM
Próstata
32.8 TPM
OUTRAS DOENÇAS (3)
congenital vertical taluscongenital vertical talus, bilateralcongenital vertical talus, unilateral
HGNC:5133UniProt:P28358

Variantes genéticas (ClinVar)

31 variantes patogênicas registradas no ClinVar.

🧬 HOXD10: GRCh37/hg19 2q31.1-32.2(chr2:171436894-189531954)x1 ()
🧬 HOXD10: GRCh37/hg19 2q31.1-31.3(chr2:175143352-180999636)x1 ()
🧬 HOXD10: GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373) ()
🧬 HOXD10: Single allele ()
🧬 HOXD10: GRCh37/hg19 2q31.1-35(chr2:169829974-215521436) ()
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

Pipeline de tratamentos
Pipeline regulatório — de medicamentos já aprovados a drogas em pesquisa exploratória.
3Fase 31
2Fase 22
·Pré-clínico2
Medicamentos catalogadosEnsaios clínicos· 0 medicamentos · 5 ensaios
Carregando informações de tratamento...

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

Rota
Anomalias CongênitasErros Inatos do Metabolismo

Hospital Infantil Albert Sabin

R. Tertuliano Sales, 544 - Vila União, Fortaleza - CE, 60410-794 · CNES 2407876

Serviço de Referência

Rota
Anomalias CongênitasDeficiência Intelectual

Hospital de Apoio de Brasília (HAB)

AENW 3 Lote A Setor Noroeste - Plano Piloto, Brasília - DF, 70684-831 · CNES 0010456

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

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

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

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

Rota
Anomalias CongênitasErros Inatos do Metabolismo

Hospital Universitário da UFJF

R. Catulo Breviglieri, Bairro - s/n - Santa Catarina, Juiz de Fora - MG, 36036-110 · CNES 2297442

Atenção Especializada

Rota
Anomalias Congênitas

Hospital das Clínicas da UFMG

Av. Prof. Alfredo Balena, 110 - Santa Efigênia, Belo Horizonte - MG, 30130-100 · CNES 2280167

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital Universitário Julio Müller (HUJM)

R. Luis Philippe Pereira Leite, s/n - Alvorada, Cuiabá - MT, 78048-902 · CNES 2726092

Atenção Especializada

Rota
Anomalias Congênitas

Hospital Universitário João de Barros Barreto

R. dos Mundurucus, 4487 - Guamá, Belém - PA, 66073-000 · CNES 2337878

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital Universitário Lauro Wanderley (HULW)

R. Tabeliao Estanislau Eloy, 585 - Castelo Branco, João Pessoa - PB, 58050-585 · CNES 0002470

Atenção Especializada

Rota
Anomalias Congênitas

Instituto de Medicina Integral Prof. Fernando Figueira (IMIP)

R. dos Coelhos, 300 - Boa Vista, Recife - PE, 50070-902 · CNES 0000647

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital Pequeno Príncipe

R. Des. Motta, 1070 - Água Verde, Curitiba - PR, 80250-060 · CNES 3143805

Serviço de Referência

Rota
Anomalias CongênitasDeficiência Intelectual

Hospital Universitário Regional de Maringá (HUM)

Av. Mandacaru, 1590 - Parque das Laranjeiras, Maringá - PR, 87083-240 · CNES 2216108

Atenção Especializada

Rota
Anomalias Congênitas

Hospital de Clínicas da UFPR

R. Gen. Carneiro, 181 - Alto da Glória, Curitiba - PR, 80060-900 · CNES 2364980

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital Universitário Pedro Ernesto (HUPE-UERJ)

Blvd. 28 de Setembro, 77 - Vila Isabel, Rio de Janeiro - RJ, 20551-030 · CNES 2280221

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do Metabolismo

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

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital São Lucas da PUCRS

Av. Ipiranga, 6690 - Jardim Botânico, Porto Alegre - RS, 90610-000 · CNES 2232928

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do Metabolismo

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

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital Universitário da UFSC (HU-UFSC)

R. Profa. Maria Flora Pausewang - Trindade, Florianópolis - SC, 88036-800 · CNES 2560356

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do Metabolismo

Hospital das Clínicas da FMUSP

R. Dr. Ovídio Pires de Campos, 225 - Cerqueira César, São Paulo - SP, 05403-010 · CNES 2077485

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

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

Rota
Anomalias Congênitas

Hospital de Clínicas da UNICAMP

R. Vital Brasil, 251 - Cidade Universitária, Campinas - SP, 13083-888 · CNES 2748223

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

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

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

UNIFESP / Hospital São Paulo

R. Napoleão de Barros, 715 - Vila Clementino, São Paulo - SP, 04024-002 · CNES 2688689

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do Metabolismo
Sobre os centros SUS: Estes centros são habilitados pelo Ministério da Saúde como Serviços de Referência em Doenças Raras ou Serviços de Atenção Especializada. O atendimento é pelo SUS, com encaminhamento da rede de atenção básica.

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

🟢 Recrutando agora

3 pesquisas recrutando participantes. Converse com seu médico sobre a possibilidade de participar.

Outros ensaios clínicos

0 ensaios clínicos encontrados.

Distribuição por fase
Ver todos no ClinicalTrials.gov
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Publicações mais relevantes

Timeline de publicações
1 papers (10 anos)
#1

Management of Lower-Extremity Deformity in Arthrogryposis Multiplex Congentia: A Narrative Review.

Medical science monitor : international medical journal of experimental and clinical research2026 Mar 13

Arthrogryposis multiplex congenita (AMC) is a highly heterogeneous constellation of disorders defined by non-progressive congenital multiple joint contractures, typically manifesting across multiple limbs. The pathology results in significant functional impairment, including restricted range of motion, chronic arthralgia, and secondary musculoskeletal deformities like scoliosis. Given that AMC is an umbrella designation encompassing over 300 distinct etiologies, the profound clinical variability poses substantial diagnostic and therapeutic challenges. The relative rarity of AMC and the absence of consensus-based, longitudinal treatment protocols create a critical void in standardized clinical management across the lifespan of patients. This comprehensive narrative review synthesizes the contemporary literature and clinical evidence to establish a structured, life-course management paradigm, extending from neonatal screening through to adult care. We advocate for an evidence-based approach that recalibrates therapeutic goals to emphasize maximal functional capacity and societal participation rather than strict anatomical normalization. Key aspects addressed include early-life neuroplasticity, the principles of staged and minimally- invasive surgical correction, and the need for seamless, lifelong, multidisciplinary care coordination. Furthermore, the review critically examines persistent clinical dilemmas concerning hip and knee contracture management, and proposes algorithmic pathways for addressing recurrent foot deformities. By integrating the latest advancements in molecular genetics, surgical innovations, and rehabilitative science, this work serves as an authoritative resource, offering clinically applicable strategies to optimize long-term outcomes for individuals living with AMC.

#2

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.

#3

Short foot exercises for flatfoot therapy: Status and prospects.

Science progress2026

Flatfoot, a disorder defined by the flattening or loss of the medial longitudinal arch (MLA), affects approximately 15.6% of the child population. It may result from congenital or acquired dysfunction of muscles, tendons, or ligaments in the foot and ankle, as well as skeletal abnormalities. Clinically, this disorder manifests as foot pain, gait abnormalities, and compensatory injuries in lower limb joints (e.g., knee and hip), thereby affecting motor function and quality of life. Short foot exercises (SFE) as a noninvasive rehabilitation strategy enhances arch height and improves dynamic foot support by actively contracting plantar muscles. It has been confirmed to effectively improve foot morphology and alleviate pain. This is a narrative review that summarizes the impact of flatfoot on patient health and the benefits of SFE-based interventions by focusing on the morphological, functional, and biomechanical characteristics of flatfoot, the standardized intervention cycles and assessment approaches for SFE as well as the mechanism(s) by which SFE alleviates flatfoot-related symptoms.

#4

Foot alignment characteristics in patients with Freiberg's disease.

Journal of orthopaedic science : official journal of the Japanese Orthopaedic Association2026 Jan

Freiberg's disease is defined as aseptic necrosis of the metatarsal heads. It is more common in female patients and primarily affects adolescents aged 11-17 years. The second metatarsal is most frequently involved, accounting for approximately 68 % of cases. This study aimed to assess foot alignment in patients with Freiberg's disease using a mapping system to evaluate radiographic images. The study cohort included 13 patients (14 feet) diagnosed with Freiberg's disease at our hospital between January 2010 and December 2022, with appropriate loading-position radiographs (Group F). The control group (Group C) comprised 14 patients with no abnormal foot alignment on the healthy side who had bilateral standing dorsoplantar images taken for other conditions. Foot alignment was evaluated using a mapping system. Mapping results on frontal radiographs showed medial deviation of the first metatarsal head and lateral deviation of the fifth metatarsal head and base in patients with Freiberg's disease, with significant differences between Groups F and C (P < 0.05). Significant differences were also observed in the M1/M2, M3/M4, and M2/M4 angles (P < 0.05). No significant differences were found between the groups in Meary's angle or calcaneal pitch on lateral radiographs. This study demonstrated that patients with Freiberg's disease exhibit specific radiographic abnormalities in foot alignment. These abnormalities may increase stress on the metatarsal head, potentially contributing to the development of the disease. Our findings offer a novel perspective on its etiology and progression. Further research is needed to determine whether these abnormalities reflect a congenital predisposition or result from ongoing pathological changes. Level Ⅲ, retrospective comparative study.

#5

Vertical right axillary thoracotomy: strategic insights for reproducible outcomes.

Multimedia manual of cardiothoracic surgery : MMCTS2026 Mar 24

Vertical right axillary thoracotomy (VRAT) has become a useful minimally invasive technique for treating certain congenital and acquired heart conditions. By making a vertical cut along the right axillary line, VRAT provides excellent access to the heart while reducing chest wall trauma and improving cosmetic results. It has been effectively used for repairing atrial septal defects, partial anomalous pulmonary venous return, tricuspid valve issues, and some aortic and left-sided lesions in suitable patients. Although these benefits are clear, broader adoption is constrained by concerns about limited visibility and unfamiliar surgical angles. Nevertheless, growing experience shows that, with careful patient selection, proper planning, and adherence to standardized procedures, VRAT can be performed safely and achieve outcomes comparable to those of traditional sternotomy. It also reduces post-operative pain, shortens recovery time, and improves patient satisfaction. As demand for less invasive cardiac surgeries increases, VRAT stands out as a valuable and adaptable surgical option in modern minimally invasive practice.

Publicações recentes

Ver todas no PubMed

📚 EuropePMC1 artigos no totalmostrando 200

2026

Vertical right axillary thoracotomy: strategic insights for reproducible outcomes.

Multimedia manual of cardiothoracic surgery : MMCTS
2026

Global research status and trends in macrodactyly research: Bibliometric and visualized analysis from 2005 to 2025.

Medicine
2026

Congenital Limb Duplication and Spinal Dysraphism: A Rare Case Report Highlighting Single-Stage Multidisciplinary Surgery and Life-Changing Outcome.

The American journal of case reports
2026

[Progress in diagnosis and treatment of finger flexion deformity caused by forearm flexor muscle lesions].

Zhongguo xiu fu chong jian wai ke za zhi = Zhongguo xiufu chongjian waike zazhi = Chinese journal of reparative and reconstructive surgery
2026

Hand Surgery in Patients with a History of Lymphedema: A Review of Current Concepts and Opinions.

The Journal of hand surgery
2026

Management of Lower-Extremity Deformity in Arthrogryposis Multiplex Congentia: A Narrative Review.

Medical science monitor : international medical journal of experimental and clinical research
2026

Comparative outcomes of Adam Frame and Ilizarov external fixator in pediatric lower limb deformity correction.

Journal of orthopaedic surgery and research
2026

Organ-Specific Histopathological Effects of Prenatal Alcohol Exposure: A Narrative Review.

Congenital anomalies
2025

Delayed Diagnosis of Tricuspid Atresia: A Case Report.

JNMA; journal of the Nepal Medical Association
2026

A New Case of PITX1-Related Mandibular-Pelvic-Patellar (MPP) Syndrome.

Clinics and practice
2026

Systemic Manifestations of Neonatal Lupus in an Infant Born to an Asymptomatic Mother: A Case Report of Anemia and Transaminitis.

The American journal of case reports
2026

D-Dimer as a Biomarker for Painful Non-Extremity Venous Malformations: A Retrospective Analysis of 68 Surgical Patients.

The Journal of dermatology
2026

Changes in Lower Limb Axial Alignment, Gait Biomechanics, and Plantar Force in Crowe Type IV Hip Dysplasia After Total Hip Arthroplasty: A Mean Ten-Year Follow-Up Retrospective Cohort Study.

Orthopaedic surgery
2026

An automatic congenital radio-ulnar synostosis deformity evaluation method (CRUS-DE): integrating TLT-SAM and GPMM-R for landmark identification.

Scientific reports
2025

Malformation Pattern and Molecular Findings in the FGFR1-Related Hartsfield Syndrome Phenotype.

Medical sciences (Basel, Switzerland)
2026

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

BMJ case reports
2025

Adams-Oliver Syndrome: A Clinical Diagnosis in the Genomic Era.

Cureus
2026

World's first surgical repair of bilateral common iliac artery agenesis.

Annals of the Royal College of Surgeons of England
2026

Cartilage-hair hypoplasia in a patient with compound heterozygous variants in the RMRP gene: A case report.

Medicine
2026

Clinical Applications of Autologous Fat Grafting in Pathological Hand Conditions.

The journal of hand surgery Asian-Pacific volume
2026

Delayed diagnosis of Townes-Brocks syndrome accompanied with kidney failure.

CEN case reports
2026

Short foot exercises for flatfoot therapy: Status and prospects.

Science progress
2025

Case Report: An exploration of the neurodevelopmental phenotype of five patients with 48,XXYY during early childhood years.

Frontiers in endocrinology
2026

Results of dedicated venous nitinol stents in treating chronic inferior vena cava occlusions.

Journal of vascular surgery. Venous and lymphatic disorders
2025

Universal Hip Ultrasound Screening in Newborns: A 21-Month Prospective Observational Study in a Spoke Center.

Medical sciences (Basel, Switzerland)
2025

Anatomical patterns and collateral pathways in congenital aplasia, atresia, and hypoplasia of iliac and lower extremity veins: a retrospective cohort study.

Surgical and radiologic anatomy : SRA
2025

Urethral Reconstruction for Hypospadias Repair Using an Ulnar Forearm Flap: A Report of Long-Term Outcomes of 3 Cases.

Microsurgery
2025

Prenatally Diagnosed De Novo Interstitial Duplication in 2p21p24.3 with Unique Manifestations: Case Report.

Molecular syndromology
2025

[Effectiveness analysis of tibial nerve transection with epineurial suture and division of common plantar digital nerve branches in treatment of congenital macrodactyly in children].

Zhongguo xiu fu chong jian wai ke za zhi = Zhongguo xiufu chongjian waike zazhi = Chinese journal of reparative and reconstructive surgery
2025

MUSCULOSKELETAL ALTERATIONS OF ORTHOPEDIC INTEREST IN MUCOPOLYSACCHARIDOSES.

Acta ortopedica brasileira
2025

CONGENITAL ANOMALIES OF THE UPPER LIMBS IN A UNIVERSITY CENTER: A CROSS-SECTIONAL STUDY.

Acta ortopedica brasileira
2025

Soft tissue balancing procedure with CASC assessment system for postaxial polydactyly and curled fifth toe deformity.

BMC musculoskeletal disorders
2025

Comparative Anatomy of Polydactyly and the Adult Nail Unit and Its Implications in the Onychofibroblasts/Onychodermis Theory.

The American Journal of dermatopathology
2026

Hemiepiphysiodesis for the treatment of valgus deformity in congenital postaxial deficiencies of the lower limbs.

Journal of pediatric orthopedics. Part B
2025

Functional and Structural Neural Plasticity Following sEMG Control of a Virtual Prosthetic Hand in an Individual with Bilateral Upper-Limb Congenital Amputation.

Annual International Conference of the IEEE Engineering in Medicine and Biology Society. IEEE Engineering in Medicine and Biology Society. Annual International Conference
2025

SYT2-Related Disease: A Case-Based Review.

Journal of clinical neuromuscular disease
2025

C-Terminal End of Gli3 Is Critical for Functional Protein Synthesis and Gli3-Dependent Anatomical Development.

Development, growth &amp; differentiation
2026

Limb Reconstruction in a Resource-Limited Environment.

Instructional course lectures
2025

Impacts of exoprosthesis use in dogs with partial amputation and limb malformations: a systematic review.

Frontiers in veterinary science
2025

Living With Hypochondroplasia: A Qualitative Exploration of Children's and Caregivers' Experiences, Challenges, and Unmet Needs.

Molecular genetics &amp; genomic medicine
2025

[Clinical and genetic characteristics of 6 cases of congenital dyskeratosis in children].

Zhonghua er ke za zhi = Chinese journal of pediatrics
2026

Neuroplastic adaptation in somatosensory representation in congenital limb deficiency: A case-control study.

Neuropsychologia
2025

Retrograde Intramedullary Femoral Lengthening With Acute Deformity Correction in Children, Adolescents, and Young Adults.

JB &amp; JS open access
2025

Complex inferior vena cava malformation initially manifesting as a pulmonary space-occupying lesion: A case report.

The Journal of international medical research
2025

Unexpected anatomical obstacle detected during emergency coronary intervention: type A interrupted aortic arch in an adult.

Cardiology in the young
2025

A new type of sirenomelia with dysplastic upper limb and cystic hygroma diagnosed in early pregnancy through 2D and 3D ultrasonography: case report.

Taiwanese journal of obstetrics &amp; gynecology
2026

Two-stage replacement of total and subtotal foot bone defects in Charcot neuroosteoarthropathy using personalised allogenic 3D bone bioimplant.

International orthopaedics
2025

Calcinosis Cutis in a Seven-Year-Old Male With Hepatic Focal Nodular Hyperplasia and Congenital Partial Venous Drainage.

Cureus
2026

The Outcomes of Guided Growth System in Juvenile and Adolescent Patients With Blount Disease.

Journal of pediatric orthopedics
2025

Spina bifida, diplomyelia, and Chiari-like malformation in an Aberdeen Angus calf.

BMC veterinary research
2025

Extra-Amniotic Bovine Foetus With Aplasia of the Posterior Body: A Case Report.

Reproduction in domestic animals = Zuchthygiene
2025

Delayed Diagnosis of Lumbosacral Lipomyelomeningocele With Tethered Cord: A Case Report.

Cureus
2025

Postural assessment of children with congenital Zika syndrome and caregivers in the home environment: a cross-sectional pilot study.

Sao Paulo medical journal = Revista paulista de medicina
2026

A Comprehensive Surgical Approach for Congenital Clasped Thumb: Introduction of a Modified Index Finger Rotation Flap.

The Journal of hand surgery
2025

Activating PIK3CA mutation promotes overgrowth of adipose tissue via inhibiting lipophagy in macrodactyly.

Cell death &amp; disease
2025

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

Journal of medical case reports
2025

[Subclavian-aortic Bypass Grafting for Aortic Coarctation in Adults:Report of a Case].

Kyobu geka. The Japanese journal of thoracic surgery
2025

A familial case of interstitial deletion of the short arm of chromosome 6p22.3-p24.3 in twins with severe delay in psychomotor and speech development.

Vavilovskii zhurnal genetiki i selektsii
2025

A surgical challenge: correcting hallux duplication and syndactyly in a pediatric patient with Gaucher disease and unprecedented skeletal manifestations.

Journal of surgical case reports
2025

A visual analysis of research hotspots and trends on macrodactyly between 2005 and 2024.

Orphanet journal of rare diseases
2025

Unexpected molecular mechanism of Orc6-based Meier-Gorlin syndrome: insights from a humanized Drosophila model.

Genetics
2025

Parietal Lobe Epilepsy Associated With 2q13 Duplication: Expanding the Neurogenetic Spectrum.

Cureus
2025

Surgical management of accessory breast tissue: liposuction and mastectomy in axillary localization - a case series.

Acta chirurgiae plasticae
2025

Acute medial tibial plateau elevation with gradual metaphyseal correction using an Ilizarov fixator for late-presenting infantile Langenskiold stage V and VI Blount's disease. Short-term results.

Journal of orthopaedic surgery and research
2025

Upper Extremity Vascular Access for Structural Interventions.

Interventional cardiology clinics
2025

Upper Extremity Variant Vascular Anatomy: Navigation Techniques.

Interventional cardiology clinics
2026

Femoral, Hip, and Pelvic Anomalies in Tibial Deficiency and Their Impact on Treatment.

Journal of pediatric orthopedics
2025

[Expert consensus on the clinical diagnosis and treatment of Congenital macrodactyly (2025 Edition)].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
2025

[Expert consensus on the clinical diagnosis and treatment of Split-hand/foot malformations (2025 Edition)].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
2025

[Expert consensus on the prenatal ultrasound screening, diagnosis, and genetic counseling for Limb developmental defects (2025 Edition)].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
2025

Phocomelia Re-Examined Using the CoULD Registry.

The Journal of hand surgery
2025

Phocomelia: Bilateral limb deficiency in a neonate: A case report.

World journal of clinical pediatrics
2025

Prediction of acute lung injury/acute respiratory distress syndrome after cardiopulmonary bypass in infants by monitoring femoral oxygen saturation.

Journal of artificial organs : the official journal of the Japanese Society for Artificial Organs
2025

A Three-Stage Surgical Approach to Preserving a Severely Hypoplastic Thumb with Syndactyly: A Case Report.

JBJS case connector
2025

Multisystemic presentation of Klippel-Feil syndrome with dextrocardia and right lung hypoplasia.

BMJ case reports
2025

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

Case reports in dentistry
2025

A Coffin-Siris syndrome-associated mutation modeled in Caenorhabditis elegans affects multiple developmental processes.

G3 (Bethesda, Md.)
2025

Imaging Findings of Congenital Distal Interphalangeal Joint Dysplasia in a 3-Month-Old Friesian Foal.

Veterinary radiology &amp; ultrasound : the official journal of the American College of Veterinary Radiology and the International Veterinary Radiology Association
2025

[Application value of hinge position design of Ilizarov circular external fixator for correcting clubfoot deformity in preventing ankle dislocation].

Zhongguo xiu fu chong jian wai ke za zhi = Zhongguo xiufu chongjian waike zazhi = Chinese journal of reparative and reconstructive surgery
2025

[Research and clinical application progress of foot lengthening surgery].

Zhongguo xiu fu chong jian wai ke za zhi = Zhongguo xiufu chongjian waike zazhi = Chinese journal of reparative and reconstructive surgery
2025

Transient Ischaemic Attacks in a Girl with Subclavian Steal Syndrome.

Journal of mother and child
2026

Prenatal Diagnosis of Hartsfield Syndrome in the Fetus With Isolated Ectrodactyly Caused by a Novel Variant in FGFR1.

American journal of medical genetics. Part A
2026

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

American journal of medical genetics. Part A
2025

Congenital absence of the inferior vena cava, a rare cause of deep vein thrombosis in adolescent: Case report.

Medicine
2025

Ischiopagus Conjoint Twins: A Case Report.

International medical case reports journal
2025

Is There Any Possible Relationship Between Antenatal Hydronephrosis and Prenatal Androgen Exposure? An Analysis Using the 2D:4D Digit Ratio.

American journal of human biology : the official journal of the Human Biology Council
2026

Sublethal Exposure to a Chlorpyrifos-Cypermethrin Mixture Disrupts Limb Development and Causes Severe Skeletal Abnormalities in Domestic Chick Embryos.

Environmental toxicology
2025

ADGRG6-related disorder: a novel mutation resulting in distal arthrogryposis and a patchy neuropathy.

Neuromuscular disorders : NMD
2025

Complex Body Wall Closure Defects in Seven Dog Fetuses: An Anatomic and CT Scan Study.

Animals : an open access journal from MDPI
2025

Lessons learned from a muscle study in nail-patella syndrome.

Orphanet journal of rare diseases
2025

Atypical Holt-Oram syndrome: Early-onset sick sinus syndrome in a Japanese family with a novel TBX5 mutation, Q469.

Journal of cardiology cases
2025

[Two cases of Coffin-Siris syndrome type 3 caused by de novoSMARCB1 gene mutations].

Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics
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

Type C tracheoesophageal fistula, ventricular septal defect, and megacolon in a 37-week fetus - A case report.

International journal of surgery case reports
2025

Surgical correction of severe limb deformities with Yester biological procedures -Fifty cases with thirty five years follow-up.

International orthopaedics
2025

Clinical characteristics of patients with SALL1-related disorder.

Pediatric nephrology (Berlin, Germany)
2025

Klippel-Trenaunay Syndrome in the Distal Part of the Unilateral Upper Limb and Venous Deficiency: A Case Report.

JNMA; journal of the Nepal Medical Association
2025

Bilateral symmetrical brachymetacarpia of the ring fingers: a case report.

The Pan African medical journal
2025

An Observational Study on Pre-natal Diagnosis of Congenital Talipes Equinovarus.

Journal of orthopaedic case reports
2025

Enhancer adoption by an LTR retrotransposon generates viral-like particles, causing developmental limb phenotypes.

Nature genetics
2025

Psychometric findings for LIMB-Q kids based on an international study of 800 children and adolescents with lower limb differences.

Journal of patient-reported outcomes
2025

Combined surgery with intramedullary rod fixation across the ankle for the treatment of Crawford IV congenital pseudarthrosis of the tibia: a long-term follow-up study.

Orphanet journal of rare diseases
2025

Association of neonatal and fetal malformations with polyhydramnios and oligohydramnios - introduction of a new "association factor".

BMC pregnancy and childbirth
2025

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

Journal of medical case reports
2026

Foot alignment characteristics in patients with Freiberg's disease.

Journal of orthopaedic science : official journal of the Japanese Orthopaedic Association
2025

Activating PIK3CA mutations in adipose-derived stem cells drive mutant-like phenotypes of wild-type cells in macrodactyly.

Cell death &amp; disease
2025

Right vertical infra-axillary thoracotomy for surgical repair of paediatric ventricular septal defect: a propensity score matched cohort study.

Interdisciplinary cardiovascular and thoracic surgery
2025

Hypertrichotic Verrucous Pigmented Plaque Over Extremities-A Clue Toward Early Verrucous Venous Malformation.

The American Journal of dermatopathology
2025

Surgical Treatment of Lower Limb Lipodermatosclerosis Secondary to Congenital Absence of Infrarenal Inferior Vena Cava and Bilateral Common Iliac Veins.

Vascular and endovascular surgery
2025

[Surgical strategies for osteotomy correction of severe lower limb deformities in hypophosphatemic rickets].

Zhongguo xiu fu chong jian wai ke za zhi = Zhongguo xiufu chongjian waike zazhi = Chinese journal of reparative and reconstructive surgery
2025

Transformative Dental Care in Pediatric Moebius Syndrome: Bridging Oral Health and Systemic Management During Prolonged Hospitalization.

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 Dentistry
2025

First-trimester ultrasound diagnosis of sirenomelia: A case report.

Case reports in women's health
2025

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

Frontiers in pediatrics
2025

Treatment Trends in Symbrachydactyly: Surgical Management in Milder Cases and Nonoperative Treatment in Severe Ones.

Journal of pediatric orthopedics
2026

Functional outcome measures for pediatric upper limb deficiencies with and without prostheses: A systematic review and appraisal.

Prosthetics and orthotics international
2026

The CoULD Ulnar Polydactyly Classification: A Multicenter Analysis.

Plastic and reconstructive surgery
2026

Congenital palmar duplication of the long finger: ventral polydactyly with distal ventral dimelia.

The Journal of hand surgery, European volume
2025

Arthrogryposis 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 Toxinology
2025

Evidence of intact resting but exercise-induced vascular impairment in congenital heart disease.

American journal of physiology. Regulatory, integrative and comparative physiology
2025

CHILD syndrome combined linear porokeratosis in a patient with a good response to the topical lovastatin/cholesterol ointment.

The Journal of dermatological treatment
2026

Early-onset Pachyonychia Congenita with Oral and Cutaneous Manifestations.

Annals of African medicine
2025

Gross Motor Function and Musculoskeletal Deformities in Children With Congenital Zika Virus Syndrome.

Journal of musculoskeletal &amp; neuronal interactions
2025

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

Clinical orthopaedics and related research
2025

Portal vein dilation in Klippel-Trenaunay and CLOVES syndromes.

International angiology : a journal of the International Union of Angiology
2025

Functional Assessment of Congenital Radioulnar Synostosis in Children.

Avicenna journal of medicine
2026

Clinical 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 surgery
2026

Predictors of Syndromic Association in Ulnar Polydactyly: Analysis of a Multicenter Congenital Hand Differences Registry in the United States.

The Journal of hand surgery
2025

Prenatal diagnosis of geleophysic dysplasia with ADAMTSL2 mutations.

Taiwanese journal of obstetrics &amp; gynecology
2025

Ulnar polydactyly of the hand: a classification system and clinical series.

BMC musculoskeletal disorders
2025

Absence of Neurodevelopmental Impairment in an Individual With KCNN3 -Related Zimmermann Laband Syndrome.

American journal of medical genetics. Part A
2025

Isolated Cutis Marmorata Telangiectatica Congenita in a Full-Term Neonate: A Case Report.

Cureus
2025

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

BMC pediatrics
2025

Magnetic 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 Resonance
2024

Case report of congenital myotonic dystrophy with multiple prenatal sonographic findings.

Case reports in perinatal medicine
2025

[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 pathology
2025

Atypical Presentation of Congenital Muscular Dystrophy: A LAMA2 Related Muscular Dystrophy.

Journal of child neurology
2025

Unilateral Pachydermodactyly in a Young Female: A Rare Diagnosis Requiring Novel Clinicopathological Correlation.

Journal of cutaneous pathology
2025

The Rare Syndrome Aicardi-Goutières 4: A Case Report and Literature Review.

Developmental neurobiology
2025

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

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

From 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 reports
2025

Ultrasound-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 anesthesiology
2025

Correlation of the LLRS-AIM Index With LD-SRS and PROMIS in Pediatric Patients With Lower Limb Differences.

Journal of pediatric orthopedics
2025

Overlap 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 Dentistry
2025

X-linked dominant chondrodysplasia punctata due to novel mutation in EBP gene: A case report.

Medicine
2025

Embryonic Vascular Dysgenesis: The Origin of Proximal Femoral Focal Deficiency.

Birth defects research
2025

Congenital absence of omentum with short bowel syndrome: a case report.

Journal of medical case reports
2025

Risk of Major Congenital Malformations Following Prenatal Exposure to Smoking Cessation Medicines.

JAMA internal medicine
2025

The Arterial Supply to the Foot and its Correlation With Return of Capillary Filling Post-Achilles Tenotomy in Congenital Clubfoot.

Journal of pediatric orthopedics
2025

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

Congenital anomalies
2024

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

Journal of mother and child
2025

Exploring ethnic and geographic disparities in polydactyly incidence in New Zealand 2010-2022.

ANZ journal of surgery
2025

Femoral-facial syndrome in a Black Bantu African preterm infant: a case report.

Journal of medical case reports
2025

The RSPO2 gene is associated with bilateral anterior amelia in Chihuahuas.

Mammalian genome : official journal of the International Mammalian Genome Society
2026

Familial Congenital Ossicular Anomaly: A Case Report.

Journal of Nippon Medical School = Nippon Ika Daigaku zasshi
2025

Treatment for central polydactyly of the foot with nine toes: a rare case report.

BMC musculoskeletal disorders
2025

Right bundle branch in ventricular septal defects.

European journal of cardio-thoracic surgery : official journal of the European Association for Cardio-thoracic Surgery
2025

Patient-Reported Outcomes After Congenital Toe Syndactyly Repair with a Plantar Triangular Flap.

Journal of the American Podiatric Medical Association
2025

External fixators and lengthening systems in pediatric upper limb.

Journal of children's orthopaedics
2025

Femoral Shortening Osteotomy in Managing Congenital Patellar Dislocation: A Case Report and Review of Literature.

Journal of orthopaedic case reports
2025

Fluid responsiveness of ambulatory paediatric patients with a Fontan circulation by passive leg raising.

Cardiology in the young
2025

Congenital long QT syndrome caused by a KCNH2 pathogenic variant exhibiting "motor seizures": a case report and literature review.

BMC pediatrics
2025

Amniotic band syndrome: Insights from first documented case report in Somalia's low-resource setting.

International journal of surgery case reports
2025

Ulnar Longitudinal Deficiency with Postaxial Polydactyly: A Case Report.

JBJS case connector
2025

Bi-allelic MED16 variants cause a MEDopathy with intellectual disability, motor delay, and craniofacial, cardiac, and limb malformations.

American journal of human genetics
2025

Genome-Wide Scan of Fifth Finger Clinodactyly.

Molecular genetics &amp; genomic medicine
2025

Use 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 &amp; aesthetic surgery : JPRAS
2025

Long-Term Outcomes of Early Enzyme Replacement Therapy With Asfotase Alfa in Perinatal Benign Hypophosphatasia: Amelioration of Bone Deformities in a Young Child.

Cureus
2025

Genotype-Phenotype Landscape of NALCN and UNC80-Related Disorders.

Neurology
2025

Postoperative and Long-Term Patient-Reported Outcomes of Type A Ulnar Polydactyly.

Plastic and reconstructive surgery
2025

[Patient-specific 3D-printed implants and templates for elbow and forearm].

Unfallchirurgie (Heidelberg, Germany)
2025

De Novo Deletion in the 12q24.23q24.31 Chromosomal Region Causing a Neurodevelopmental Syndrome in a Female Saudi Patient: A Case Report.

Cureus
2025

Freiberg's disease: variation of surgeries, outcomes, and first population-based incidence.

Journal of pediatric orthopedics. Part B
2025

Ultrasound-Based Analysis of Fetal Conus Medullaris Anomalies: A Comprehensive Study on Prenatal Diagnosis and Postnatal Outcomes.

Pediatric neurology
2025

Congenital Lower Extremity.

Clinics in plastic surgery
2025

Congenital Differences of the Hand and Pediatric Brachial Plexus Birth Palsy.

Clinics in plastic surgery
2025

[Rare osteological diseases in the rheumatological consultation: hypophosphatasia and phosphate loss syndromes].

Zeitschrift fur Rheumatologie
2025

Infantile myofibromatosis: Small bumps pose big problems.

Journal of neonatal-perinatal medicine
2026

Clinical Outcome of Modified Wassel-Flatt Type IV Radial Polydactyly: Analysis of Subtype and Morphology.

The Journal of hand surgery
2026

ERF-Related Craniosynostosis in a Patient With Hypochondroplasia: A Case Report.

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

Lower Extremity Abnormalities in Children.

American family physician
2025

Silicone 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 volume
2025

S-design osteotomy and internal fixation for multiplanar and acute correction of deformity in infantile Blount's disease - preliminary results from single centre series.

International orthopaedics
2025

Revisiting short finger and cleft type symbrachydactyly subtype differentiation utilizing the congenital upper limb differences (CoULD) registry.

The Journal of hand surgery, European volume
2025

Comparative Efficacy of 3D-Printed Insoles in Managing Common Foot Conditions: A Review.

Medical science monitor : international medical journal of experimental and clinical research
2025

Polydactyly and syndactyly linked to GLI3 and TBX5 mutations: A pediatric case report.

Global medical genetics
2025

Anesthetic 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 medicine
2025

Highlighting the importance of X-ray diagnostics for targeted molecular genetic analysis in the diagnosis of rare autosomal dominant craniometaphyseal dysplasia.

BMJ case reports
2025

Single-Stage Reconstruction of Congenital Multifinger Syndactyly with Contiguous Cross-Shaped Advancement Flaps.

Plastic and reconstructive surgery
2025

Clinical 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 B
2025

Reconstructive 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 reports
2025

Artificial intelligence-based, non-invasive assessment of the central aortic pressure in adults after operative or interventional treatment of aortic coarctation.

Open heart
2025

A physiotherapeutic approach to a baby with right disgenesis of thumb and left agenesis of upper extremity: A case report.

Prosthetics and orthotics international
2025

Surgical 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 volume
2025

Neonatal upper limb arteriovenous malformation: a therapeutic challenge.

BMJ case reports
2025

Generalized lymphatic anomaly in a pediatric patient manifesting as a rare presentation of hemorrhagic pleural effusion: a case report.

BMC pediatrics
2024

[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 diseases
2024

Surface electromyography evaluation for decoding hand motor intent in children with congenital upper limb deficiency.

Scientific reports
2024

A dual dimensional optimization strategy for automatic osteotomy preoperative planning in congenital radioulnar synostosis.

Scientific reports
2025

Macrodystrophia lipomatosa: Clinical and radiological insights into localized gigantism.

Radiology case reports
2024

Rotational osteotomy of forearm bones for treatment of congenital radioulnar synostosis in children.

Journal of orthopaedic surgery and research

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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. 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
  2. Preoperative physiotherapy rehabilitation of lower limb deformities secondary to meningomyelocele in mid-childhood.
    BMJ case reports· 2026· PMID 41554615mais citado
  3. Short foot exercises for flatfoot therapy: Status and prospects.
    Science progress· 2026· PMID 41490170mais citado
  4. Foot alignment characteristics in patients with Freiberg's disease.
    Journal of orthopaedic science : official journal of the Japanese Orthopaedic Association· 2026· PMID 40603195mais citado
  5. Vertical right axillary thoracotomy: strategic insights for reproducible outcomes.
    Multimedia manual of cardiothoracic surgery : MMCTS· 2026· PMID 41874419mais citado
  6. [Dental esthetic restoration for cleft lip and palate patients].
    Zhonghua Kou Qiang Yi Xue Za Zhi· 2025· PMID 40443314recente
  7. [Tubular Breast Deformity: Presentation of an Established Treatment Algorithm and Results of a Retrospective Study Over 7 Years].
    Handchir Mikrochir Plast Chir· 2025· PMID 40164126recente
  8. De Novo Missense Mutation in FREM1 Identified in a Chinese Patient with Comorbid Congenital Microtia and Pulmonary Hypoplasia.
    J Craniofac Surg· 2025· PMID 39819863recente
  9. Network Analysis of Legg-Calve-Perthes Disease and Its Comorbidities.
    J Clin Med· 2025· PMID 39797341recente
  10. Otoplasty and Ear Reconstruction Complications.
    Facial Plast Surg· 2025· PMID 39537130recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:294944(Orphanet)
  2. MONDO:0017427(MONDO)
  3. GARD:21181(GARD (NIH))
  4. Variantes catalogadas(ClinVar)
  5. Busca completa no PubMed(PubMed)
  6. 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

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