Introdução
O que você precisa saber de cara
Esta é uma lista de doenças que começam com a letra "M".
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Entender a doença
Do básico ao detalhe, leia no seu ritmo
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 21 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 35 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Nenhum gene associado encontrado
Os dados genéticos desta condição ainda estão sendo catalogados.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Nanismo mesomélico, tipo Nievergelt
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.
Publicações mais relevantes
Neglected Bilateral Clubfoot Clubhand Deformity.
Neglected bilateral clubfoot clubhand deformity is a mesomelic type of dysplasia that is characterized by disproportionate shortness of the middle segment of all limbs and is a form of short-limb dwarfism. Affected individuals are clinically of normal stature with particularly short mesomelic segments with nearly symmetric limb abnormalities. The patient was a 20-year-old male Indian who came to outpatient department for cosmetic purpose. Upper limb abnormalities include short forearm, and elbow joints which are broad and deformed with limited flexion-extension range of motion and decreased pronosupination of the forearms. The hands are normal in appearance. The foot is also affected and deformed. The fibulae are malformed and long in relation to the tibiae. Both bones, tibia, and fibula are dysplastic. The atypical foot deformity seen in this patient is characterized by a severe equinovarus component. He is able to do his activities of daily living and can do activities such as gripping, holding a pen/cup, opening a door, and writing on paper comfortably. He is able to walk normally without any support. This patient has normal stature, normal systemic examination, and normal chromosomes. The neglected bilateral clubfoot clubhand deformity a type of mesomelic dysplasia was the most likely diagnosis in our patient. Disorders involving Nievergelt syndrome and mesomelic dwarfism were considered but none were likely possibilities. Our patient had the malformed fibulae and tibiae, and the severe equinovarus deformity of the feet. There were triangular shaped ulnae which were deficient distally, and the radii were bowed. Unlike Nievergelt syndrome, our patient did not have a severe deformity of hands and fingers. He is functionally sound and able to do his activities of daily living and can do activities such as gripping, holding a pen/cup, opening a door, and writing on paper comfortably. He is able to walk normally without any support. These features have not been previously described in literature leading to our diagnosis of neglected bilateral clubfoot clubhand deformity.
Concomitant rhomboid-shaped tibiae and fibulae, finger-like projections, and orthopedic management in a new variant of nievergelt syndrome: A case report.
The rare Nievergelt syndrome (NS) is the most severe form of mesomelic dysplasia and is characterized by disproportionate shortness of the limbs. The aim of this case report was to describe the clinical and radiological features of a rare case of NS. Here we describe a female patient originally presenting with bilateral hand, lower leg, and foot deformities at the age of 10 years old. In addition to the characteristic features of NS, this patient presented with finger-like projections on her heels, bilateral hand anomalies, and atypical facial features. She underwent concomitant bilateral tibial lengthening and deformity correction using external fixators due to severe bilateral lower leg deformities with shortness. At 10 years of age, this patient was able to walk independently with significant improvement in her ambulation. There is a clear gap in the literature regarding the orthopedic management of mesomelic limb deformities due to NS. No studies have been designed to illustrate surgical planning in the management of orthopedic deformities in this rare syndrome. Limb lengthening and deformity correction using an external fixator can be considered as a salvage method or alternative to amputation for patients with severe mesomelic limb deformities due to NS.
Surgical Considerations for Massive Tarsal Coalitions in Multiple Synostosis Syndrome: A Case Report.
Tarsal-carpal coalition syndrome is an autosomal dominant inherited condition characterized by fusion of the carpal and tarsal bones and foot deformity. Associated pain and/or gait disturbance are the main complaints. The deformity usually consists of varying degrees of hindfoot varus and forefoot supination. The treatment of these patients is mainly aimed at symptomatic relief. We performed a published data review of this condition and discuss our findings in the context of the case of a 10-year-old female with congenital varus deformity of both feet. The tarsal-carpal coalition syndrome has been included in the spectrum of heritable disorders related to mutations in the NOG gene. Deformity management should be customized to the patient's requirements, and satisfactory results are achievable with adequate rehabilitation. It is important to remember that surgery is only necessary for symptomatic relief and that patients with tarsal-carpal coalition syndrome should be followed up over time because the condition can evolve.
Publicações recentes
Phenotype Variations in a Family with Various Rearrangements in the Locus of the SHOX Gene.
📖 RevisãoExploring genotype-phenotype correlation of a novel SHOX gene splicing variant: Langer mesomelic dysplasia or idiopathic short stature.
Neglected Bilateral Clubfoot Clubhand Deformity.
Mild phenotypes in patients with different deletions in the 3' enhancer region of SHOX.
Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles.
📚 EuropePMCmostrando 3
Neglected Bilateral Clubfoot Clubhand Deformity.
Journal of orthopaedic case reportsConcomitant rhomboid-shaped tibiae and fibulae, finger-like projections, and orthopedic management in a new variant of nievergelt syndrome: A case report.
International journal of surgery case reportsSurgical Considerations for Massive Tarsal Coalitions in Multiple Synostosis Syndrome: A Case Report.
The Journal of foot and ankle surgery : official publication of the American College of Foot and Ankle SurgeonsAssociações
Organizações que acompanham esta doença — pra ter apoio e orientação
Ainda não temos associações cadastradas para Nanismo mesomélico, tipo Nievergelt.
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Comunidades
Grupos ativos de quem convive com esta doença aqui no Raras
Ainda não existe comunidade no Raras para Nanismo mesomélico, tipo Nievergelt
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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.
- Neglected Bilateral Clubfoot Clubhand Deformity.
- Concomitant rhomboid-shaped tibiae and fibulae, finger-like projections, and orthopedic management in a new variant of nievergelt syndrome: A case report.
- Surgical Considerations for Massive Tarsal Coalitions in Multiple Synostosis Syndrome: A Case Report.The Journal of foot and ankle surgery : official publication of the American College of Foot and Ankle Surgeons· 2015· PMID 25799911mais citado
- Phenotype Variations in a Family with Various Rearrangements in the Locus of the SHOX Gene.
- Exploring genotype-phenotype correlation of a novel SHOX gene splicing variant: Langer mesomelic dysplasia or idiopathic short stature.
- Mild phenotypes in patients with different deletions in the 3' enhancer region of SHOX.
- Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:2633(Orphanet)
- OMIM OMIM:163400(OMIM)
- MONDO:0008098(MONDO)
- GARD:3554(GARD (NIH))
- Busca completa no PubMed(PubMed)
- Q430387(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