Raras
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Síndrome mamário-digital-ungueal
ORPHA:238744CID-10 · Q87.2OMIM 613689DOENÇA RARA

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.

Mantido por Agente Raras·Colaborar como especialista →

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.

Publicações científicas
2 artigos
Último publicado: 2022 May 15

Escala de raridade

CLASSIFICAÇÃO ORPHANET · BRASIL 2024
<1 / 1 000 000
Ultra-rara
<1/50k
Muito rara
1/20k
Rara
1/10k
Pouco freq.
1/5k
Incomum
1/2k
Prevalência
0.0
Worldwide
Casos conhecidos
11
pacientes catalogados
Início
Infancy
+ neonatal
🏥
SUS: Cobertura mínimaScore: 15%
CID-10: Q87.2
🇧🇷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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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
1 sintomas
💪
Músculos
1 sintomas

+ 3 sintomas em outras categorias

Características mais comuns

Hipertrofia mamária
Displasia ungueal
Distrofia ungueal
Anoníquia
Herança autossômica dominante
5sintomas
Sem dados (5)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 5 características clínicas mais associadas, ordenadas por frequência.

Hipertrofia mamáriaBreast hypertrophy
Displasia unguealNail dysplasia
Distrofia unguealNail dystrophy
AnoníquiaAnonychia
Herança autossômica dominanteAutosomal dominant inheritance

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1
Total histórico2PubMed
Últimos 10 anos200publicações
Pico2026198 papers
Linha do tempo
2025Hoje · 2026
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

🧬

Nenhum gene associado encontrado

Os dados genéticos desta condição ainda estão sendo catalogados.

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 — Síndrome mamário-digital-ungueal

🗺️

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

Pediatric COVID-19 in Korea: Lessons and Strategies for Future Disease-X Preparedness.

Journal of Korean medical science2026 Mar 23

Este artigo sobre a COVID-19 pediátrica na Coreia revela que, embora as crianças tenham tido muitos casos, especialmente na onda Omicron, as consequências graves foram raras. Para médicos e pacientes, as lições cruciais incluem a rápida adaptação do sistema de saúde com protocolos focados nas crianças – como isolamento domiciliar para casos leves e permissão de acompanhamento por cuidadores no hospital – e a implementação de vigilância específica para síndromes inflamatórias como a MIS-C. Além disso, a vacinação pediátrica e o reconhecimento de escolas como infraestrutura essencial foram vitais, sublinhando a importância de estratégias específicas para crianças em futuras pandemias.

🇧🇷 traduzido
#2

Lessons From the Coronavirus Disease 2019 Pandemic: Implications for Antimicrobial Stewardship for COVID-19 Management.

Journal of Korean medical science2026 Mar 23

A pandemia de COVID-19 intensificou a ameaça da resistência antimicrobiana (AMR), pois houve um uso excessivo e muitas vezes desnecessário de antibióticos para tratar a infecção viral, mesmo com baixas taxas de coinfecção bacteriana. Para médicos e pacientes, é crucial entender que antibióticos não combatem vírus e seu uso indevido contribui para a emergência de bactérias resistentes, dificultando tratamentos futuros. Estratégias como diagnósticos precisos, uso guiado de antibióticos e vacinação contra a COVID-19 são essenciais para reduzir o uso desnecessário e combater a AMR.

🇧🇷 traduzido
#3

Sequential sequencing reveals the architecture and complexity of genomic variants in patients with Alport syndrome.

Nature communications2026 Mar 23

Este estudo aprofundou o entendimento genético da Síndrome de Alport, uma doença renal hereditária, ao identificar as causas genéticas em 91,7% dos pacientes usando uma combinação de técnicas de sequenciamento. Para pacientes e médicos, é crucial que, além do sequenciamento de exoma (WES) padrão, abordagens mais avançadas (como o sequenciamento de genoma completo e de nanoporos) permitiram diagnosticar casos com variantes genéticas não codificadoras ou estruturais complexas, que antes eram difíceis de detectar. Isso não só melhora significativamente a taxa de diagnóstico genético para a Síndrome de Alport, mas também propõe um novo modelo para identificar a causa de outras doenças hereditárias.

🇧🇷 traduzido
#4

A WHO global research priority agenda for wasting and nutritional oedema in infants and children under 5 years.

BMJ global health2026 Mar 23

A Organização Mundial da Saúde (OMS) identificou grandes lacunas no conhecimento sobre a prevenção e tratamento da desnutrição aguda (wasting) e edema nutricional em crianças menores de 5 anos. Para endereçar isso, especialistas globais desenvolveram uma agenda de pesquisa prioritária até 2030, focando em como melhorar a entrega e a eficácia das intervenções para prevenir e gerenciar essas condições em diferentes grupos de crianças. Esta agenda guiará futuras pesquisas para garantir que médicos e pacientes tenham acesso a cuidados e estratégias de prevenção mais eficazes e baseados em evidências.

🇧🇷 traduzido
#5

Tau pathology in epilepsy: emerging mechanisms and translational opportunities.

Brain : a journal of neurology2026 Mar 23

A epilepsia, especialmente em idosos, está fortemente ligada à demência, sendo a patologia da proteína tau identificada como um elo mecânico crucial entre essas condições. A pesquisa busca entender o papel da tau nas crises epilépticas e nos problemas cognitivos, visando desenvolver novos métodos de diagnóstico e tratamentos que não apenas reduzam as crises, mas também melhorem os resultados cognitivos dos pacientes.

🇧🇷 traduzido

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Aortic dissection during the perinatal period in women with Marfan-related disorders: a retrospective cohort study using the Japanese Diagnosis Procedure Combination database.

The journal of maternal-fetal &amp; neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians
2026

[A case of left ventricular apical hypoplasia].

Zhonghua xin xue guan bing za zhi
2026

Emphysematous Pyelonephritis After Embolization of a Nonfunctioning Kidney Graft.

Nephrology (Carlton, Vic.)
2026

Factors predicting STI-positive cervicitis and pelvic inflammatory disease, and implications on antibiotic use: a cross-sectional analysis.

Sexual health
2026

Educational attainment among primary school children with neurodisability: a population-based cohort study using linked education and health data from England.

Archives of disease in childhood
2026

How has genetics changed the diagnosis and care of multiple endocrine neoplasia type 2? The merits and pitfalls of a genetic-based diagnostic and therapeutic approach.

Annales d'endocrinologie
2026

Congestive heart failure in patients with acute respiratory distress syndrome: a secondary analysis of large randomized controlled trials.

Anaesthesia, critical care &amp; pain medicine
2026

Shaoyao Gancao Decoction ameliorates rheumatoid arthritis via inhibition of TNF-α/NF-κB signaling pathway.

Journal of ethnopharmacology
2026

Post-finasteride syndrome: survey of dermatologists from the Spanish Hair and Nail Disorders Group.

Actas dermo-sifiliograficas
2026

Thiamine pyrophosphate suppresses platelet activation by modulating PI3K-Akt and MAPK pathways: An integrated network pharmacology and experimental study.

Life sciences
2026

Metabolic Dysfunction-Associated Steatotic Liver Disease (MASLD) in Schizophrenia: A Systematic Review and Meta-analysis.

Journal of the Academy of Consultation-Liaison Psychiatry
2026

Longitudinal Subphenotyping of Acute Respiratory Distress Syndrome: Implications in Prognostic Prediction and Clinical Intervention.

Respirology (Carlton, Vic.)
2026

Salvia miltiorrhiza extract attenuates cardiorenal syndrome by inhibiting IL-1β mediated cross-talk between heart and kidney.

Phytomedicine : international journal of phytotherapy and phytopharmacology
2026

Bidirectional association between irritable bowel syndrome and depression among probands and unaffected siblings: A nationwide population-based study.

General hospital psychiatry
2026

The Chinese medicine monomer Schisandrin C inhibits PRRSV infection by regulating the OGT-PI3K/AKT/mTOR signaling pathway.

Veterinary microbiology
2026

Phenylephrine attenuates LPS-induced lung injury via Foxh1/GSK-3β/β-catenin-mediated alveolar epithelial cell differentiation in ARDS.

International immunopharmacology
2026

A decade of change in delirium management: Temporal trends in psychotropic recommendations in a tertiary care hospital.

Journal of psychosomatic research
2026

Increasing awareness of effective laboratory test utilization via case-based microlearning.

American journal of clinical pathology
2026

Implementation of a best practice advisory alert for inpatient frailty screening and intervention: A pilot quality improvement program.

The Journal of frailty &amp; aging
2026

Longitudinal norms of frailty measured by the frailty index: A cross-national comparison using data from the survey of health, aging, and retirement in Europe (SHARE).

The Journal of frailty &amp; aging
2026

Therapeutic Plasma Exchange for Uncontrollable Bleeding After Platelet Inhibition with Ticagrelor: A Report of 2 Cases.

The American journal of case reports
2026

Efficacy of Olezarsen in Severe Hypertriglyceridemia and Acute Pancreatitis Risk: A Systematic Review and Meta-Analysis of Randomized Controlled Trials.

Digestive diseases and sciences
2026

The prevalence of fibromyalgia syndrome in individuals with obstructive sleep apnea syndrome and the impact of continuous positive airway pressure treatment on fibromyalgia symptoms.

Sleep &amp; breathing = Schlaf &amp; Atmung
2026

Acute food protein-induced enterocolitis syndrome in Switzerland: a 10-year retrospective review.

European journal of pediatrics
2026

A pediatric case of C3 glomerulonephritis initially misclassified as IgA nephropathy with a favorable response to C3-targeted therapy.

Pediatric nephrology (Berlin, Germany)
2026

Urine microscopy can identify cholemic nephropathy as a distinct form of kidney dysfunction in patients with acute on chronic liver failure.

Scientific reports
2026

Evaluation of randomized controlled trial literature in traditional Chinese medicine: a literature quality assessment system.

Trials
2026

Exploring the knowledge and attitudes of nursing students regarding protection from Polycystic Ovary Syndrome (PCOS): a cross-sectional study.

BMC nursing
2026

A Standardized workflow for Orthohantavirus production, detection, and antiviral screening.

Virology journal
2026

Tetrahedral framework nucleic acid delivery of emodin enables precision antibacterial and anti-inflammatory therapy for drug-resistant Staphylococcus aureus.

Journal of nanobiotechnology
2026

Long-term prognostic value of apolipoprotein Β levels in patients with very premature (≤40 years) acute coronary syndrome.

Journal of clinical lipidology
2026

A practical clinical approach to the diagnosis and management of morphea (localized scleroderma).

Best practice &amp; research. Clinical rheumatology
2026

AISF practice guidance on pharmacological treatment of metabolic-dysfunction associated steatotic liver disease and steatohepatitis (MASLD/MASH): A 2026 Update.

Digestive and liver disease : official journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver
2026

Catheter malposition in a peritoneal dialysis patient with Chilaiditi sign.

Kidney international
2026

Prognostic impact of systolic pulmonary and aortic regurgitation in heart failure with preserved ejection fraction.

International journal of cardiology
2026

Surreptitious Glucocorticoid-Containing Supplements Causing Severe Adrenal Insufficiency in Hospitalized Patients.

Mayo Clinic proceedings
2026

Impact of Post-Transplant Cyclophosphamide on the Prognostic Value of HCT-CI.

Transplantation and cellular therapy
2026

Daneman Syndrome Revisited.

The Journal of pediatrics
2026

Gestational diabetes mellitus in women with polycystic ovary syndrome.

Diabetes &amp; metabolism
2026

Joint effects of cardiometabolic index and remnant cholesterol on cardiovascular disease in cardiovascular-kidney-metabolic syndrome stages 0-3: a nationwide cohort study.

Experimental gerontology
2026

The pathogenic ADAMTSL2 D167N variant causes geleophysic dysplasia-like connective tissue changes in mice.

The American journal of pathology
2026

Genomic newborn screening as a paradigm shift in rare disease management, with emphasis on endocrine conditions.

Annales d'endocrinologie
2026

Pulses That Predict: Postoperative Perfusion Index and Outcomes in High-risk Pediatric Cardiac Surgery.

The Journal of thoracic and cardiovascular surgery
2026

Biomarkers in Traumatic Lung Injury - A Systematic Review.

The Journal of surgical research
2026

Emerging disease-modifying therapies for Angelman syndrome: A comprehensive review for pediatric neurologists.

Brain &amp; development
2026

Safety of vaginal estrogen in breast cancer survivors: Current evidence on systemic absorption and oncologic outcomes.

Maturitas
2026

A multicomponent Fc-fused subunit vaccine induces cross-protective immunity against porcine reproductive and respiratory syndrome virus QYYZ-like and NADC30-like strains.

Veterinary microbiology
2026

Gray matter volume associations with clinical outcomes in epilepsy: A regional cohort study.

Epilepsy research
2026

Urinary metal mixtures and cardio-kidney-metabolic risk in adults from a legacy-contaminated area: Repeated-measures cohort evidence and computational validation.

Ecotoxicology and environmental safety
2026

Multifactorial anticholinergic toxicity-like presentation and malignant parkinsonism in Perry syndrome.

Parkinsonism &amp; related disorders
2026

Performance of Artificial Intelligence-Powered ECG Analysis in Suspected ST-Segment Elevation Myocardial Infarction.

JACC. Advances
2026

Characterization of a natural recombinant fowl adenovirus of serotypes 8a and 8b.

Poultry science
2026

A gated pathway for suspected urinary tract infection in dementia.

Diagnostic microbiology and infectious disease
2026

Interhemispheric CA1 projections to the subiculum support spatial cognition and are affected in a mouse model of the 22q11.2 deletion syndrome.

Cell reports
2026

The 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 : MRCAS
2026

Prevalence and Risk of Falls and Fractures in the Idiopathic Inflammatory Myopathies: A Cross-Sectional Study of 470 Patients.

Rheumatology and therapy
2026

Standard work tools for managing pediatric baclofen pump infections and withdrawal.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
2026

In vitro evaluation of Limosilactobacillus and Enterococcus isolates for inhibitory activity against porcine reproductive and respiratory syndrome virus.

Archives of microbiology
2026

Pulmonary Hypertension in Pediatric Patients with Noonan Syndrome Undergoing Cardiac Catheterization.

Pediatric cardiology
2026

Beyond anti-SSA and anti-SSB. The clinical significance of new antibodies in the diagnosis of Sjögren disease.

Rheumatology international
2026

Uptake and timing of risk-reducing gynecologic surgery among individuals with Lynch syndrome identified via population screening.

Familial cancer

Associações

Organizações que acompanham esta doença — pra ter apoio e orientação

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Comunidades

Grupos ativos de quem convive com esta doença aqui no Raras

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Doenças relacionadas

Doenças com sintomas parecidos — ajudam quem ainda está buscando diagnóstico

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. Pediatric COVID-19 in Korea: Lessons and Strategies for Future Disease-X Preparedness.
    Journal of Korean medical science· 2026· PMID 41873445mais citado
  2. Lessons From the Coronavirus Disease 2019 Pandemic: Implications for Antimicrobial Stewardship for COVID-19 Management.
    Journal of Korean medical science· 2026· PMID 41873444mais citado
  3. Sequential sequencing reveals the architecture and complexity of genomic variants in patients with Alport syndrome.
    Nature communications· 2026· PMID 41872207mais citado
  4. A WHO global research priority agenda for wasting and nutritional oedema in infants and children under 5 years.
    BMJ global health· 2026· PMID 41871869mais citado
  5. Tau pathology in epilepsy: emerging mechanisms and translational opportunities.
    Brain : a journal of neurology· 2026· PMID 41871415mais citado
  6. Mammary-Digital-Nail Syndrome With Orofacial Changes.
    Indian Pediatr· 2022· PMID 35567321recente
  7. Mammary-digital-nail (MDN) syndrome: a novel phenotype maps to human chromosome 22q12.3-13.1.
    Eur J Hum Genet· 2010· PMID 20145678recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:238744(Orphanet)
  2. OMIM OMIM:613689(OMIM)
  3. MONDO:0013368(MONDO)
  4. GARD:17180(GARD (NIH))
  5. Busca completa no PubMed(PubMed)
  6. 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

Síndrome mamário-digital-ungueal
Compêndio · Raras BR

Síndrome mamário-digital-ungueal

ORPHA:238744 · MONDO:0013368
Prevalência
<1 / 1 000 000
Casos
11 casos conhecidos
Herança
Autosomal dominant
CID-10
Q87.2 · Síndromes com malformações congênitas afetando predominantemente os membros
Início
Infancy, Neonatal
Prevalência
0.0 (Worldwide)
MedGen
UMLS
C3150946
EuropePMC
Wikidata
DiscussaoAtiva

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