A Síndrome Mamária-Digital-Ungueal é uma condição rara que causa má-formações nos membros, caracterizada por: unhas deformadas ou ausentes desde o nascimento; dedo mindinho mais curto; polegares com aparência de dedos comuns; e falta ou desenvolvimento incompleto das pontas dos dedos das mãos e dos pés. Além disso, é acompanhada por um crescimento exagerado das mamas, que ficam muito grandes (gigantomastia), em meninas na fase da puberdade ou logo após.
Introdução
O que você precisa saber de cara
A Síndrome Mamária-Digital-Ungueal é uma condição rara que causa má-formações nos membros, caracterizada por: unhas deformadas ou ausentes desde o nascimento; dedo mindinho mais curto; polegares com aparência de dedos comuns; e falta ou desenvolvimento incompleto das pontas dos dedos das mãos e dos pés. Além disso, é acompanhada por um crescimento exagerado das mamas, que ficam muito grandes (gigantomastia), em meninas na fase da puberdade ou logo após.
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 3 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 5 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 — Síndrome mamário-digital-ungueal
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Pesquisa ativa
Ensaios clínicos abertos e novidades científicas recentes
Pesquisa e ensaios clínicos
Nenhum ensaio clínico registrado para esta condição.
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Epilepsy researchUrinary metal mixtures and cardio-kidney-metabolic risk in adults from a legacy-contaminated area: Repeated-measures cohort evidence and computational validation.
Ecotoxicology and environmental safetyMultifactorial anticholinergic toxicity-like presentation and malignant parkinsonism in Perry syndrome.
Parkinsonism & related disordersPerformance of Artificial Intelligence-Powered ECG Analysis in Suspected ST-Segment Elevation Myocardial Infarction.
JACC. AdvancesCharacterization of a natural recombinant fowl adenovirus of serotypes 8a and 8b.
Poultry scienceA gated pathway for suspected urinary tract infection in dementia.
Diagnostic microbiology and infectious diseaseInterhemispheric CA1 projections to the subiculum support spatial cognition and are affected in a mouse model of the 22q11.2 deletion syndrome.
Cell reportsThe Value of Robotic-Assisted Combined Left Renal Vein and Proximal Gonadal Vein Transposition for Nutcracker Syndrome: Preliminary Experience From a Single Centre.
The international journal of medical robotics + computer assisted surgery : MRCASPrevalence and Risk of Falls and Fractures in the Idiopathic Inflammatory Myopathies: A Cross-Sectional Study of 470 Patients.
Rheumatology and therapyStandard work tools for managing pediatric baclofen pump infections and withdrawal.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryIn vitro evaluation of Limosilactobacillus and Enterococcus isolates for inhibitory activity against porcine reproductive and respiratory syndrome virus.
Archives of microbiologyPulmonary Hypertension in Pediatric Patients with Noonan Syndrome Undergoing Cardiac Catheterization.
Pediatric cardiologyBeyond anti-SSA and anti-SSB. The clinical significance of new antibodies in the diagnosis of Sjögren disease.
Rheumatology internationalUptake and timing of risk-reducing gynecologic surgery among individuals with Lynch syndrome identified via population screening.
Familial cancerAssociações
Organizações que acompanham esta doença — pra ter apoio e orientação
Ainda não temos associações cadastradas para Síndrome mamário-digital-ungueal.
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Comunidades
Grupos ativos de quem convive com esta doença aqui no Raras
Ainda não existe comunidade no Raras para Síndrome mamário-digital-ungueal
Pacientes, familiares e cuidadores se organizam em comunidades pra compartilhar experiências, fazer perguntas e se apoiar. Você pode ser o primeiro.
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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.
- Pediatric COVID-19 in Korea: Lessons and Strategies for Future Disease-X Preparedness.
- Lessons From the Coronavirus Disease 2019 Pandemic: Implications for Antimicrobial Stewardship for COVID-19 Management.
- Sequential sequencing reveals the architecture and complexity of genomic variants in patients with Alport syndrome.
- A WHO global research priority agenda for wasting and nutritional oedema in infants and children under 5 years.
- Tau pathology in epilepsy: emerging mechanisms and translational opportunities.
- Mammary-Digital-Nail Syndrome With Orofacial Changes.
- Mammary-digital-nail (MDN) syndrome: a novel phenotype maps to human chromosome 22q12.3-13.1.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:238744(Orphanet)
- OMIM OMIM:613689(OMIM)
- MONDO:0013368(MONDO)
- GARD:17180(GARD (NIH))
- Busca completa no PubMed(PubMed)
- Q55784029(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
