Raras
Buscar doenças, sintomas, genes...
Síndrome Down
ORPHA:870CID-10 · Q90.0CID-11 · LD40.0OMIM 190685DOENÇA RARA

A síndrome de Down é uma anomalia cromossômica causada pela presença de uma terceira cópia (parcial ou total) do material genético do cromossomo 21 e que se caracteriza por deficiência intelectual variável, hipotonia muscular e frouxidão articular, frequentemente associada a um dismorfismo facial característico e diversas anomalias, como defeitos cardíacos, gastrointestinais ou endócrinos.

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Introdução

O que você precisa saber de cara

📋

A síndrome de Down é uma anomalia cromossômica causada pela presença de uma terceira cópia (parcial ou total) do material genético do cromossomo 21 e que se caracteriza por deficiência intelectual variável, hipotonia muscular e frouxidão articular, frequentemente associada a um dismorfismo facial característico e diversas anomalias, como defeitos cardíacos, gastrointestinais ou endócrinos.

Pesquisas ativas
34 ensaios
447 total registrados no ClinicalTrials.gov
Publicações científicas
19.689 artigos
Último publicado: 2026 Apr 14

Escala de raridade

CLASSIFICAÇÃO ORPHANET · BRASIL 2024
1-5 / 10 000
Ultra-rara
<1/50k
Muito rara
1/20k
Rara
1/10k
Pouco freq.
1/5k
Incomum
1/2k
Prevalência
0.0
Worldwide
Início
Antenatal
+ neonatal
🏥
SUS: Cobertura parcialScore: 40%
Centros em: PA, PR, SC, RS, ES +10CID-10: Q90.0
🇧🇷Dados SUS / DATASUS2024
12.890
internações/ano
R$ 3.450
custo médio/internação
ESTADOS COM MAIS INTERNAÇÕES
SPMGRJBARS
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

❤️
Coração
9 sintomas
🦴
Ossos e articulações
9 sintomas
😀
Face
9 sintomas
👁️
Olhos
6 sintomas
📏
Crescimento
5 sintomas
🫃
Digestivo
5 sintomas

+ 41 sintomas em outras categorias

Características mais comuns

90%prev.
Orelha redonda
Muito frequente (99-80%)
90%prev.
Face plana
Muito frequente (99-80%)
90%prev.
Ponte nasal deprimida
Muito frequente (99-80%)
90%prev.
Neutrofilia
Muito frequente (99-80%)
90%prev.
Pescoço curto
Muito frequente (99-80%)
90%prev.
Dificuldade específica de aprendizagem
Muito frequente (99-80%)
102sintomas
Muito frequente (11)
Frequente (36)
Ocasional (30)
Muito raro (7)
Sem dados (18)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 102 características clínicas mais associadas, ordenadas por frequência.

Orelha redondaRound ear
Muito frequente (99-80%)90%
Face planaFlat face
Muito frequente (99-80%)90%
Ponte nasal deprimidaDepressed nasal bridge
Muito frequente (99-80%)90%
NeutrofiliaNeutrophilia
Muito frequente (99-80%)90%
Pescoço curtoShort neck
Muito frequente (99-80%)90%

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Total histórico19.689PubMed
Últimos 10 anos200publicações
Pico2026177 papers
Linha do tempo
2026Hoje · 2026🧪 1981Primeiro ensaio clínico
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

🧬

Condição cromossômica — cromossomo 21

Envolve alteração no cromossomo 21. O fenótipo resulta da alteração na dose de múltiplos genes simultaneamente — não há gene causal único. Diagnóstico por cariótipo, CMA ou FISH.

Down Syndrome Critical Region (DSCR): 21q22.13→q22.2. Genes DYRK1A, DSCAM, APP (Alzheimer precoce).

Genes codificantes
234
no cromossomo 21
Haploinsuficientes
6
perda de dose patogênica
Triplosensíveis
1
excesso de dose patogênico

Genes dose-sensíveis

Genes do cromossomo 21 com evidência de sensibilidade à dose segundo ClinGen Dosage Map . São fortes candidatos a explicar parte do fenótipo (7 ao todo).

Fontes: ClinGen Dosage Sensitivity Map · GENCODE v44 (GRCh38)

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.
Aprovado1
2Fase 22
·Pré-clínico17
Medicamentos catalogadosEnsaios clínicos· 0 medicamentos · 20 ensaios
Carregando informações de tratamento...

Onde tratar no SUS

Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)

🇧🇷 Atendimento SUS — Síndrome Down

Centros de Referência SUS

24 centros habilitados pelo SUS para Síndrome Down

Centros para Síndrome Down

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

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

NCT07416201 · Natural History of Dysregulation and Aging of the Immune Sys…Recrutando
NCT06213090 · Patterns of Neurodevelopmental DisordersRecrutando
NCT04726241 · The Pediatric Acute Leukemia (PedAL) Screening Trial - A Stu…Recrutando
PHASE1, PHASE2
NCT07334912 · AEF0217 in Participants With Down SyndromeRecrutando
PHASE2
NCT07280468 · Endotype DIrected Treatment for OSA in Down SyndromeRecrutando
PHASE4
NCT04165109 · Trial-Ready Cohort-Down Syndrome (TRC-DS)Recrutando
NCT04278404 · Pharmacokinetics, Pharmacodynamics, and Safety Profile of Un…Recrutando
NCT07195253 · Oro-myofunctional Characteristics and Obstructive Sleep Apne…Recrutando
NCT07296861 · HomeGrown: A Family-based Lifestyle Intervention to Support …Recrutando
NA
NCT05196984 · Gamma Frequency Stimulation in Individuals With Down Syndrom…Recrutando
NA
NCT07493096 · Intensive Multimodal Neurorehabilitation Targeting Neuroplas…Recrutando
NCT07484464 · Effects of the Otago Exercise Program on Balance, Endurance,…Recrutando
NA
NCT06783725 · Sleep Intervention and Quality of Life in Down SyndromeRecrutando
NA
NCT05527652 · Self-Supporting Nasopharyngeal Airway (ssNPA) Treating Upper…Recrutando
NA
NCT05985486 · Brain Outcomes With Lifestyle Change in Down SyndromeRecrutando
NA
NCT07428863 · Effects of Jump Rope on Navicular Drop in Down SyndromeRecrutando
NA
NCT05702645 · A Study to Learn More About the Health of Persons With Down …Recrutando
NCT06740162 · Physical Activity and Community EmPOWERment ProjectRecrutando
NA
NCT05508971 · Treatment of Obstructive Sleep Apnea With Personalized Surge…Recrutando
NA
NCT03233646 · Retinal Imaging in Neurodegenerative DiseaseRecrutando

Outros ensaios clínicos

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Publicações mais relevantes

Timeline de publicações
8.946 papers (10 anos)

Mostrando amostra de 200 publicações de um total de 8.946

#1

The quality of life of parents of children with disabilities in Saudi Arabia: a systematic review.

Frontiers in pediatrics2026

Esta revisão sistemática sobre a Arábia Saudita revela que pais e cuidadores de crianças com deficiência, incluindo síndrome de Down, frequentemente enfrentam uma qualidade de vida (QoL) diminuída, com mães sendo as mais afetadas. As dificuldades são predominantes nas esferas física, social e ambiental, e são agravadas por desemprego, baixa renda e acesso limitado a serviços de apoio. Para pacientes e médicos, é crucial reconhecer que o bem-estar dessas famílias é comprometido, exigindo intervenções de apoio direcionadas para melhorar sua QoL.

🇧🇷 traduzido
#2

The evolving landscape of CAR T cell therapy in children and young adults with B cell acute lymphoblastic leukemia.

Molecular therapy. Oncology2026 Jun 18

A terapia com células CAR T tem demonstrado notável sucesso no tratamento da leucemia linfoide aguda de células B (LLA-B) em crianças e jovens adultos, inclusive em populações complexas como as crianças com Síndrome de Down, onde proporciona remissões profundas e, muitas vezes, duradouras. No entanto, a persistência de recaídas em quase metade dos pacientes e a introdução de novas terapias exigem aprimoramentos contínuos para otimizar o uso das células CAR T, possivelmente mais cedo no tratamento, buscando maior durabilidade e segurança.

🇧🇷 traduzido
#3

Sucking Patterns in Infants with Down Syndrome admitted to a Level 4 Neonatal Intensive Care Unit.

Puerto Rico health sciences journal2026 Mar

Este estudo revela que bebês com Síndrome de Down frequentemente apresentam hipotonia generalizada e padrões de sucção disfuncionais ou desorganizados (em 93% dos casos), mesmo quando nascem a termo. Isso ressalta a importância crítica de avaliações formais detalhadas da alimentação e deglutição, utilizando ferramentas clínicas, para determinar a prontidão para a alimentação oral e guiar intervenções baseadas em evidências que promovam uma alimentação segura e melhores resultados neurodesenvolvimentais.

🇧🇷 traduzido
#4

Increased dendritic inhibition of dentate gyrus granule cells in a mouse model of Down syndrome.

Frontiers in cellular neuroscience2026

A Síndrome de Down, que causa deficiência intelectual, é associada a um desequilíbrio na excitação-inibição neuronal no cérebro. Este estudo em camundongos (modelo de SD) revelou um aumento marcante da inibição sináptica em áreas específicas dos dendritos das células granulares, enquanto a inibição no corpo celular pode estar reduzida ou inalterada. Essa descoberta sugere que o excesso de inibição em regiões específicas pode ser um alvo terapêutico promissor para restaurar o equilíbrio neuronal e, consequentemente, melhorar a função cognitiva em pessoas com Síndrome de Down.

🇧🇷 traduzido
#5

Selective chr21 homolog silencing reveals polymorphisms influence the epigenetic silencing and functional dosage of RWDD2B.

American journal of human genetics2026 Mar 13

Este estudo revelou que, em células da Síndrome de Down (que possuem uma cópia extra do cromossomo 21), a expressão de um gene específico (RWDD2B) nem sempre é proporcional ao número de cópias. Em vez disso, sua atividade é significativamente influenciada por variações genéticas (polimorfismos) e modificações epigenéticas (metilação) em apenas uma das cópias do cromossomo, o que pode levar a um "doseamento" funcional diferente do esperado. Embora a função do RWDD2B seja desconhecida, ele é ligado à osteoartrite e pode ter papéis na imunidade ou inflamação, áreas relevantes para a saúde de pessoas com Síndrome de Down.

🇧🇷 traduzido

Publicações recentes

Ver todas no PubMed

📚 EuropePMC13.105 artigos no totalmostrando 196

2026

Respiratory syncytial virus - from discovery to vaccines.

Journal of medical microbiology
2026

The quality of life of parents of children with disabilities in Saudi Arabia: a systematic review.

Frontiers in pediatrics
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

Neuropathological measures of increased tau phosphorylation across the Down syndrome lifespan.

Acta neuropathologica
2026

Preoperative pulmonary hemodynamics and clinical decision making to determine operability and risk of long-term pulmonary hypertension in infants with open shunt under 1 year.

International journal of cardiology
2026

Combining blood biomarkers and the German version of the Dementia Screening Questionnaire for Individuals with Intellectual Disabilities (DSQIID-G) for diagnosing cognitive decline in Down syndrome.

Alzheimer's &amp; dementia : the journal of the Alzheimer's Association
2026

Targeting lncRNA DSCAM-AS1 for disease diagnosis and therapy.

Non-coding RNA research
2026

The evolving landscape of CAR T cell therapy in children and young adults with B cell acute lymphoblastic leukemia.

Molecular therapy. Oncology
2026

Complications of Adenotonsillectomy Surgery: Analysis of Pediatric Down Syndrome Patients in a Tertiary Center.

The Journal of craniofacial surgery
2026

Soft Tissue Surgical Technique for Obligate Dislocation of the Patella.

Ochsner journal
2026

First-Trimester Down Syndrome Screening in Renal-Transplanted Pregnant Women: Blood Creatinine Levels Impact False-Positive Rate.

Prenatal diagnosis
2026

Patterns, survival, and mortality predictors in children with down syndrome and congenital heart disease in resource-limited settings: a follow-up study.

BMC pediatrics
2026

Sucking Patterns in Infants with Down Syndrome admitted to a Level 4 Neonatal Intensive Care Unit.

Puerto Rico health sciences journal
2026

Quantitative analysis of DNA-GATA1 binding alterations linked to hematopoietic disorders.

The FEBS journal
2026

Measurement of Tau Protein and Aβ Amyloid Plaques in Postmortem Human Brains of Down Syndrome and Alzheimer's Disease by Using [125I]IPPI and [125I]IBETA Autoradiography.

Synapse (New York, N.Y.)
2026

Strengthening Undergraduate Medical Education for Inclusive Health Care for People With Down Syndrome and Intellectual and Developmental Disabilities in Medical Schools: Protocol for a Scoping Review.

JMIR research protocols
2026

Identification of autosomal and sex chromosome aneuploidies using next generation sequencing.

Bioinformatics (Oxford, England)
2026

Positron emission tomography of neuroinflammation in Down syndrome and Alzheimer's disease: Current status and future perspectives.

Neural regeneration research
2026

The Amyloid Plaque Proteomes of Alzheimer's Disease and Mild Cognitive Impairment.

Research square
2026

Increased dendritic inhibition of dentate gyrus granule cells in a mouse model of Down syndrome.

Frontiers in cellular neuroscience
2026

Evaluation of [18F]MK-6240 binding to tau protein in postmortem human brains of Down syndrome and Alzheimer's disease and assessment of off-target (non-tau) binding.

Acta neuropathologica communications
2026

Definitive ileostomy in Total Colonic Aganglionosis: results and considerations from a single-center experience.

Journal of pediatric surgery
2026

Selective chr21 homolog silencing reveals polymorphisms influence the epigenetic silencing and functional dosage of RWDD2B.

American journal of human genetics
2026

Dietary Patterns and Lifestyle Factors as Determinants of Body Mass Index and Body Composition in Individuals with Down Syndrome-A Study Across Three Clinical Sites.

Nutrients
2026

The Effects of Physical Therapy in the Rehabilitation of Motor Delays in Children with Down Syndrome: A Systematic Review.

Journal of clinical medicine
2026

Biologically Younger Individuals, as Identified by MARK-AGE Biological Age Scores, Display a Distinct Favourable Blood Chemistry Profile Regardless of Age.

Aging cell
2026

Transient Abnormal Myelopoiesis in a Non-Down Syndrome Infant With Subsequent Evolution to Acute Myeloid Leukemia.

Pediatric blood &amp; cancer
2026

Prophylactic Levofloxacin Use in Oncology and Hematopoietic Stem Cell Transplants for Children Under 2 Years of Age.

Journal of pediatric hematology/oncology
2026

Predicting down syndrome: a comparative evaluation of nasal bone length in mid-trimester pregnancy.

BMC pregnancy and childbirth
2026

Nail Disorders in Children With Down Syndrome: A Multicenter Study.

Pediatric dermatology
2026

Pediatric SleepNet: A Deep Learning Network for Reliable Pediatric Sleep Staging Across Developmental Stages.

Sleep
2026

Tinea Capitis and Down Syndrome: A Multi-Center Retrospective Cohort Study.

Pediatric dermatology
2026

Validation of the sibling acceptance questionnaire among typically-developing emerging adult siblings of individuals with disabilities.

Frontiers in psychology
2026

A Comparative Effectiveness Study of Lorazepam or IVIg Versus no Treatment for Down Syndrome Regression Disorder.

Neurology and therapy
2026

High Metabolic Syndrome Prevalence in Down Syndrome Children: Need for New Guidelines.

American journal of medical genetics. Part A
2026

Values of Individuals With Rare Genetic Neurodevelopmental Disorders and Their Family/Caregivers in Healthcare: A Scoping Review to Inform Guideline Development.

Journal of intellectual disability research : JIDR
2025

Immediate Effect of LED Cluster on Masticatory Muscles in Children and Adolescents Diagnosed With Down Syndrome: A Pilot Study.

Journal of lasers in medical sciences
2026

Acute kidney injury and chronic kidney disease in individuals with Down syndrome: a nationwide cohort study.

Clinical kidney journal
2026

Genetic analysis of triplicated genes affecting sex-specific skeletal deficits in Down syndrome model mice.

G3 (Bethesda, Md.)
2026

Nucleoli-localized KANSL2 as an epigenetic regulator of ribosome biogenesis in glioblastoma cells.

Communications biology
2026

Familial Robertsonian Translocation, rob(14;21), with high risk for Down syndrome.

Cytogenetic and genome research
2026

Electroconvulsive Therapy in a Patient With Down Syndrome Regression Disorder and Inspire Device: A Case Report.

The journal of ECT
2026

When the Wires Cross Twice: A Case Report of the Perioperative Management of a Pediatric Patient With Both Abdominal Cardiac and Diaphragm Pacemakers.

A&amp;A practice
2026

A Newborn With Down-Klinefelter Syndrome and Bilateral Congenital Cataracts Harboring a Novel MAPKAPK3 Mutation.

Journal of vitreoretinal diseases
2026

Differences in upper airway endotype among phenotypically different pediatric OSA patients.

Sleep medicine
2026

Obstructive Sleep Apnea-Hypopnea Syndrome in Children With Down Syndrome Treated at a Tertiary Care Hospital in Northeastern Colombia.

Cureus
2025

Formative evaluation of PREPARE for Autistic Adults: An adult autism training for resident physicians designed with autistic adults and family members.

Autism in adulthood
2026

Between care and collapse: the hidden health and emotional struggles of Saudi mothers of children with Down syndrome.

Frontiers in psychology
2026

Spontaneous remission of congenital acute megakaryoblastic leukemia in a neonate with down syndrome.

Open medicine (Warsaw, Poland)
2026

Estimation of the number of people with Down syndrome in Latin America and the Caribbean.

Genetics in medicine : official journal of the American College of Medical Genetics
2026

Medicaid home and community based services are vital for adults with intellectual and developmental disabilities: A descriptive study of service use among all adult enrollees, 2022.

Disability and health journal
2026

Prognostic Value of Leuko-glycemic Index as a Marker of Immediate Postoperative Events After Repair of Complete Atrioventricular Septal Defect in Infants With Down Syndrome.

Journal of cardiothoracic and vascular anesthesia
2026

Efficacy of bumetanide for cognitive improvement in children and adolescents with Down syndrome: study protocol of a randomised, double-blind, placebo-controlled trial.

BMJ open
2026

Tongue strength and endurance in relation to oral cavity morphology among children with Down syndrome in the permanent dentition period.

Journal of the Indian Society of Pedodontics and Preventive Dentistry
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)
2026

Educational Attainment of Children With Major Congenital Anomalies During Primary School in England: A Population Cohort Study.

Paediatric and perinatal epidemiology
2026

Neuroinflammation as a driver of Down syndrome-associated Alzheimer's disease.

Brain, behavior, and immunity
2026

Socio-Ecological Factors of Physical Activity in Children and Adolescents With Down Syndrome: A Mixed-Methods Systematic Review.

Journal of intellectual disability research : JIDR
2026

Establishment and characterization of induced pluripotent stem cell lines from individuals with Down syndrome and age-matched euploid donors.

Stem cell research
2026

Infants ≤24 weeks are not just smaller extremely preterm infants.

Journal of perinatology : official journal of the California Perinatal Association
2026

Adults with Down syndrome display altered entrainment of occipital cortical neurons.

Brain communications
2026

Experiences and Preferences With Pediatric Health Supervision Care Among Family Caregivers of Individuals With Down Syndrome.

Clinical pediatrics
2026

Multi-omics investigation of thyroid development and dysfunction in down syndrome.

Human molecular genetics
2026

Ophthalmic screening in down syndrome: A DSMIG UK Best practice recommendation (Revised 2025).

Eye (London, England)
2026

Detection, imaging and quantification of phosphoinositides using ion chromatography suppressed conductivity and mass spectrometry imaging.

Methods in enzymology
2026

[A woman with a very itchy rash].

Nederlands tijdschrift voor geneeskunde
2026

The cholinergic system exerts opposing effects on memory at different stages of disease progression in Alzheimer's and Down syndrome model systems.

Alzheimer's &amp; dementia : the journal of the Alzheimer's Association
2026

Long-term outcome in children with infantile epileptic spasms syndrome: a multicenter retrospective study in Korea.

Clinical and experimental pediatrics
2026

Prosodic Imitation in Children With Down Syndrome: Evidence From Sentence Repetition and Pitch Contour Modeling.

American journal of speech-language pathology
2025

Directed Teaching of Clinical Reasoning in the Fourth Year of Medical School: A Structured Summary of Genetic Observations.

La Tunisie medicale
2026

Searching for New Possible Peripheral Biomarkers of Cognitive Decline in Down Syndrome: The Role of IL-18 Pathway and its Interaction with TGF-β1 and TNF-α.

Neuromolecular medicine
2026

Surveying immune and inflammatory alterations in periodontitis among individuals with Down syndrome: A preliminary cross-sectional study.

Journal of periodontology
2026

A Rare Dual Atresia Case Report Introducing Gastric Distension-Assisted Esophageal Approximation (GDEA): A Hypothetical Novel Technique for Long-Gap Esophageal Atresia.

International medical case reports journal
2026

Decoding Alzheimer's disease through down syndrome: insights from a genetically defined population.

Current opinion in neurology
2026

Habilitative and rehabilitative educational interventions as protective factors against cognitive decline in adults with Down syndrome: A retrospective study.

L'Encephale
2026

Communicative Development Inventories (CDIs) in etiologically diverse developmental conditions: A systematic review.

Research in developmental disabilities
2026

Cognitive Predictors of Adaptive Behaviour in Children With Down Syndrome: A Systematic Review.

Journal of applied research in intellectual disabilities : JARID
2026

Up-regulation of Minibrain/DYRK1A contributes to macrocephaly and brain overgrowth in a Drosophila model of fragile X syndrome.

Proceedings of the National Academy of Sciences of the United States of America
2026

Factors impacting survival in individuals with Down syndrome-associated Alzheimer's disease.

Alzheimer's &amp; dementia : the journal of the Alzheimer's Association
2026

Incidence and risk factors of respiratory events after tonsillectomy for obstructive sleep apnea in children with a preoperative indication of intensive care unit admission.

European journal of pediatrics
2026

Parents' Experiences and Expectations From Physiotherapy for Children With Down Syndrome: A Scoping Review.

Journal of intellectual disability research : JIDR
2025

A rare intersection: Oral carcinoma cuniculatum in the context of Down syndrome.

Journal of oral and maxillofacial pathology : JOMFP
2025

Assessment of cognitive function in individuals with Down syndrome and dementia: a systematic review.

Dementia &amp; neuropsychologia
2026

Loss of cystathionine-β-synthase contributes to elevated OXPHOS, a vulnerability in Ara-C-resistant Myeloid Leukemia in Down syndrome.

Biochemical pharmacology
2026

Spatial abilities in aging adults with Down syndrome.

Alzheimer's &amp; dementia : the journal of the Alzheimer's Association
2026

Obstructive sleep apnea in adults with Down syndrome: body composition, metabolic profile and cognitive status.

Clinics (Sao Paulo, Brazil)
2026

Multi-level surgery for obstructive sleep apnoea in syndromic and non-syndromic paediatric patients - A systematic review and meta-analysis.

Sleep medicine
2026

Does First-Line Treatment Impact Outcomes in Trisomy 21-Associated Infantile Epileptic Spasms Syndrome? A Multicenter North American Analysis.

Pediatric neurology
2026

The Experience of Depression, Self-Efficacy, and Family Functioning Among Mothers of Children with Autism Spectrum Disorder: A Mixed Methods Study [Formula: see text].

Journal of the American Psychiatric Nurses Association
2026

Impact of National Screening Programs on Down syndrome prevalence and outcomes.

Acta obstetricia et gynecologica Scandinavica
2026

Second trimester quad test for fetal down syndrome screening as a predictor of spontaneous preterm birth in a developing country: a population-based study.

BMC pregnancy and childbirth
2026

Case report: acute phosphine inhalation poisoning in a patient with down's syndrome.

International journal of emergency medicine
2026

Evolving Alzheimer's Disease Clinical Practice: Updated Diagnostic Criteria, Fluid Biomarkers, and Special Considerations for Anti-Amyloid Therapies.

Psychiatry investigation
2026

Delirium and adverse clinical outcomes: a matched cohort study in the UK Biobank.

The lancet. Healthy longevity
2026

Probable cerebral amyloid angiopathy - related inflammation in a 32-year-old woman with down syndrome.

Neurogenetics
2026

Trisomy 21 alters ciliary localization of Sonic Hedgehog signaling proteins.

bioRxiv : the preprint server for biology
2026

Leucettinib-21 decreases dosage effects of DYRK1A in human trisomy 21 iPSC-derived neural cells.

bioRxiv : the preprint server for biology
2026

Uptake of HPV vaccination and associated factors in France: a nationwide study from 2007 to 2023.

Vaccine
2026

Levetiracetam prevents Aβ production through SV2a-dependent modulation of APP processing in Alzheimer's disease models.

Science translational medicine
2026

Four women whose pioneering contributions to science have been largely overlooked.

eLife
2026

Impaired BDNF-TrkB trafficking and signalling in Down syndrome basal forebrain neurons.

Cell death &amp; disease
2026

Transient Abnormal Myelopoiesis with Myeloid Cell Thrombus in a Case of Down Syndrome: A Rare Placental Finding.

American journal of perinatology
2026

Sod1 trisomy causes ENS developmental defects and susceptibility to Hirschsprung disease via neuronal Ret suppression and glial remodeling.

bioRxiv : the preprint server for biology
2025

Oral hygiene and caries experience in children with down syndrome and autism spectrum disorder: a systematic review and meta-analysis.

Frontiers in dental medicine
2026

Deep Learning-Based Eye Rubbing Detection Using Wrist-Based Wearable Devices to Enable Rigorous Study of Risk Factors for Ectasia Progression.

Cornea
2026

Swallowing characteristics in Down syndrome at an advanced age: a preclinical study in the Ts65Dn mouse model.

Frontiers in neurology
2026

Gene dosage imbalance disrupts systemic metabolism in the Dp16 Down syndrome mouse model.

bioRxiv : the preprint server for biology
2026

SOD1 at the Crossroads: Co-Overexpression of Canonical Antioxidant Response and Noncanonical Hydrogen Sulfide Generation Pathways in Down Syndrome, With Immune Cell Implications.

Research square
2026

Transcranial Photobiomodulation for Neuromodulation of Brain Disorders: A Perspective.

Neuromodulation : journal of the International Neuromodulation Society
2026

Child Deictic Gesture Use and Maternal Labeling in Toddlers With Down Syndrome.

American journal of speech-language pathology
2025

Parental perceptions and attitudes towards the inclusion of children with neurodevelopmental, physical and sensory disabilities.

Frontiers in psychiatry
2026

Temporal dynamics of white matter hyperintensities related to Alzheimer's disease in adults with Down syndrome.

Alzheimer's &amp; dementia : the journal of the Alzheimer's Association
2026

Life expectancy of people with intellectual disability: a retrospective cohort study from New South Wales, Australia.

BMJ open
2026

Camp-based entertainment rehabilitation for young people with down syndrome in Saudi Arabia.

Research in developmental disabilities
2026

Does a TEOAE refer / AABR pass profile at the neonatal hearing screening indicate risk?

International journal of pediatric otorhinolaryngology
2026

Caregiver-reported social impacts in down syndrome regression disorder.

PloS one
2026

Brain aging in neurodevelopmental disorders: a narrative review of oxidative, inflammatory, and mitochondrial mechanisms.

Neurodegenerative disease management
2026

[Obstructive sleep apnoea in children with Down s syndrome: challenges and treatment strategies].

Nederlands tijdschrift voor tandheelkunde
2026

Validity and reliability of a scale of activities of daily living at home in children, youth and adults with Down syndrome in Chile.

Journal of health, population, and nutrition
2026

Single cell analysis of developing Merkel cells reveals the emergence of non-coding RNA biotypes as a hallmark of terminal differentiation.

Cell death and differentiation
2026

Outcomes of an Exercise Intervention in Adults With Down Syndrome and Congenital Heart Disease: A Secondary Analysis.

Journal of intellectual disability research : JIDR
2026

Generation of an induced pluripotent stem cell line (AHMUCNi004-A) from a 14-year-old male with Down syndrome.

Stem cell research
2026

Adjunctive cannabidiol in intractable pediatric epilepsy: A retrospective study on tolerability, efficacy, and safety across genetic and nongenetic etiologies.

Medicine
2026

Down syndrome birth rate post Dobbs decision: has it changed?

Journal of perinatology : official journal of the California Perinatal Association
2025

Attitudes Towards Medical Research Participation Among Those With Down Syndrome and Their Caregivers.

Journal of policy and practice in intellectual disabilities
2026

Muscle Thickness in Lower Extremity and Locomotor Functions in Children With Down Syndrome and Typical Developing Peers.

Journal of intellectual disability research : JIDR
2026

The Wnt/β-catenin pathway maintains homeostasis of amniocytes in Down syndrome.

BMC molecular and cell biology
2026

Intracerebral age-independent reduction of endothelium-dependent hyperpolarization and nitric oxide signalling in the Dp16 mouse model of Down syndrome.

The Journal of physiology
2026

Associations between receptive and expressive vocabulary and early literacy in young students with intellectual disabilities using AAC.

Research in developmental disabilities
2026

DYRK1A Expression and Thyroid Dysfunction in Subjects With Down Syndrome.

Clinical endocrinology
2026

Serum and cerebral folate are normal in Down Syndrome Regression Disorder.

Molecular autism
2026

miRNAs mediated Hsa21 gene suppression as potential therapeutic agent for Down syndrome: molecular dynamics and MM/PBSA-based study.

Journal of molecular modeling
2026

The characteristics and surgical outcomes of atlantoaxial instability in pediatric patients with Down syndrome: a case-match study.

Journal of pediatric orthopedics. Part B
2026

Views of Facial Attractiveness of Faces of Individuals With and Without an Intellectual Disability.

Journal of applied research in intellectual disabilities : JARID
2025

Exploring behavioral dynamics: an in-depth analysis of adult students with disabilities.

Frontiers in rehabilitation sciences
2025

Prevalence, Spectrum, and Management of Thyroid Dysfunction in Children with Down Syndrome: A Retrospective Study from Southern Saudi Arabia.

Children (Basel, Switzerland)
2026

A New Hypothesis on the Etiology of Down Syndrome: The Role of Anti-Zona Pellucida Antibodies as an Age-Independent Factor.

International journal of molecular sciences
2026

Prevalence of Functional Constipation in Children with Down Syndrome: A Study Conducted at a General Pediatrics Service.

Biomedicines
2026

Moving Beyond Somatic Alterations: Uncovering the Germline Basis of Myeloid Malignancies.

Cancers
2025

Characterizing Autism Traits in Toddlers with Down Syndrome: Preliminary Associations with Language, Executive Functioning, and Other Developmental Domains.

Behavioral sciences (Basel, Switzerland)
2026

Global and Local Processing of Letters and Faces in Children and Adolescents with Typical and Atypical Development.

Brain sciences
2026

The Effects of Cognitive-Motor Dual-Task Exercise and Exergaming on Balance and Functional Mobility in Children with Down Syndrome: A Comparative Randomized Trial.

Brain sciences
2025

Shared Disease Mechanisms in Neurodevelopmental Disorders: A Cellular and Molecular Biology Perspective.

Brain sciences
2026

Some Biomechanical and Anthropmetric Differences Between Elite Swimmers with Down Syndrome and Intellectual Disabilities.

Sports (Basel, Switzerland)
2026

New Digital Workflow for the Use of a Modified Stimulating Palatal Plate in Infants with Down Syndrome.

Dentistry journal
2026

Technical nuances of a posterior transdural approach for resection of a compressive retro-odontoid cyst with 2D operative video and graphical illustration: illustrative case.

Journal of neurosurgery. Case lessons
2026

GATA1 N-terminus coordinates metabolic reprogramming in erythropoiesis.

Blood
2026

Development of a novel MSRE-dPCR assay for non-invasive prenatal testing of trisomy 21.

Analytical methods : advancing methods and applications
2026

The Dp16 Down syndrome mouse model does not exhibit oral interferon-gammopathy or susceptibility to oral candidiasis.

mBio
2025

Evaluation of a Co-Research Program: optimising engagement in research.

British journal of learning disabilities
2026

Examining associations between foundational and complex mathematics skills in people with Down syndrome and typically developing children.

The British journal of developmental psychology
2026

Generation and Exosomal Noncoding RNA Profiling of Down Syndrome-Specific Induced Pluripotent Stem Cells.

Stem cell reviews and reports
2026

Vowel space change as a predictor of speech intelligibility gain in Down syndrome.

Clinical linguistics &amp; phonetics
2026

Synaptic and intrinsic membrane defects disrupt early neural network dynamics in Down syndrome.

Nature communications
2026

The impact of congenital heart disease on the timing of Alzheimer's disease in Down syndrome.

Alzheimer's &amp; dementia (Amsterdam, Netherlands)
2026

Impact of a Pediatric Down Syndrome Clinic on the Identification of Celiac Disease in the Patient Population.

American journal of medical genetics. Part A
2026

Orthodontic Appliance-Related Mucosal Ulcerations in Newborns and Infants With Craniofacial Disorders.

Clinical and experimental dental research
2026

Moyamoya syndrome and persistent trigeminal artery: description of a case with Trisomy 21.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
2026

Single-beat method echocardiographic comparison of ventricular-arterial coupling in adults with and without Down syndrome.

American journal of physiology. Heart and circulatory physiology
2026

Influence of posture during mastication on body composition and nutritional intake in individuals with Down syndrome.

PeerJ
2026

Unravelling myelofibrosis in infants: A hidden pediatric challenge!

Indian journal of pathology &amp; microbiology
2026

Dyggve-Melchior-Clausen syndrome in three siblings: a unique case series with dual diagnosis of Down syndrome and Hirschsprung disease.

Journal of pediatric endocrinology &amp; metabolism : JPEM
2026

Brain volume trajectories in Down syndrome and autosomal dominant Alzheimer's disease.

Alzheimer's &amp; dementia : the journal of the Alzheimer's Association
2026

Incidence, patterns of clinical presentation, and haematological characteristics of paediatric acute myeloid leukaemia in Uganda: a retrospective analysis.

BMC cancer
2026

Single-cell atlas of the developing Down syndrome brain cortex.

Nature medicine
2026

Clinical Factors Associated with Postnatal Urinary Titin N-Fragment in Neonates.

Clinical laboratory
2025

Autism Observation Scale for Infants: Systematic Review and Meta-Analysis in Samples at Increased Likelihood of Autism Spectrum Disorders.

Review journal of autism and developmental disorders
2026

Caregiver-Reported Attainment of Developmental Skills in Down Syndrome.

Pediatrics
2026

Altered hepatic metabolism in Down syndrome.

Cell reports
2026

Understanding of trisomy 21 prenatal screening among pregnant women in France: A cross-sectional study in light of 2019 guidelines.

Journal of gynecology obstetrics and human reproduction
2026

ADHEAR in infants with Down syndrome and minimal hearing loss.

International journal of pediatric otorhinolaryngology
2026

Is trisomy 21 a risk factor for postoperative complications after pediatric surgery for neonatal gastrointestinal disease? A retrospective study using a National Clinical Database in Japan.

Pediatric surgery international
2025

[Dysfunction and premature aging of hematopoietic stem cells in Down syndrome].

[Rinsho ketsueki] The Japanese journal of clinical hematology
2026

What Motivates Parents of Young Children With Down Syndrome to Participate in Research: A Focus Group Analysis.

Journal of applied research in intellectual disabilities : JARID
2026

Identification of RALY as a novel regulator of DSCR1 transcription.

Biochemical and biophysical research communications
2026

Concordance of Biological and Clinical Staging of Alzheimer Disease Pathology in Down Syndrome.

JAMA neurology
2026

Relationship of cholinergic basal forebrain atrophy with the time course of Alzheimer's disease pathology and cognitive decline in adults with Down syndrome: a longitudinal cohort study.

Alzheimer's &amp; dementia : the journal of the Alzheimer's Association
2026

Chronic suppression of monoacylglycerol lipase restores adult neurogenesis in the septal but not the temporal DG in Ts65Dn mouse model of Down syndrome.

Brain research bulletin
2026

A Novel Acetylcholine Nanosensor for Single Vesicle Storage and Sub-Quantal Exocytosis in Living Neurons and Organoids.

Angewandte Chemie (International ed. in English)
2025

Adapted Judo as a Multidimensional Intervention: Effects on Physical Fitness and Psychosocial Well-Being in Adolescents with Down Syndrome.

Healthcare (Basel, Switzerland)
2025

A Critical Assessment of Antenatal Monitoring for Fetal Well-Being in Down Syndrome Pregnancies.

Diagnostics (Basel, Switzerland)
2025

Shape and Morphology of the Sella Turcica in Patients with Trisomy 21-A Systematic Review.

Diagnostics (Basel, Switzerland)
2025

THE EFFICACY OF SENSORY-ADAPTED DENTAL INTERVENTIONS FOR CHILDREN WITH DEVELOPMENTAL DISABILITIES AND SENSORY SENSITIVITIES.

Georgian medical news
2026

Artificial intelligence application in the prediction of spontaneous preterm birth by cervical length in the first trimester of pregnancy: Comparison of three measurement methods.

International journal of gynaecology and obstetrics: the official organ of the International Federation of Gynaecology and Obstetrics
2025

A Review of Clinical Trials in Down Syndrome.

International review of research in developmental disabilities
2026

Epidemiology of congenital heart defects in live births: findings from a study in Southern Brazil.

BMC cardiovascular disorders
2026

Novel insights into Alzheimer's disease through the study of individuals with Down syndrome.

Alzheimer's &amp; dementia : the journal of the Alzheimer's Association
2026

Explaining the Comprehension-Production Vocabulary Gap Through Neural Networks and Cross-Syndrome Evidence: Insights From Williams Syndrome.

Developmental science
2026

Mothers' and Fathers' Recode Use With Young Children With Down Syndrome.

American journal of speech-language pathology
2026

Review of early development in children with Down syndrome: family and clinician partnership.

BMJ paediatrics open
2026

A minimally invasive dried blood spot biomarker test for the detection of Alzheimer's disease pathology.

Nature medicine
2026

Elevated mortality and upregulated SARS-CoV-2-associated pathways in innate and adaptive immune cells from individuals with Down syndrome.

PloS one
2025

Understanding Keratoconus in Down Syndrome: From Etiology to Management - A Narrative Review.

Clinical ophthalmology (Auckland, N.Z.)
2026

Lingual Tonsillectomy for Resistant Obstructive Sleep Apnea in Children with Down Syndrome: A Systematic Review and Meta-Analysis.

The Annals of otology, rhinology, and laryngology
2025

Risk factors associated with hearing loss in neonates: A retrospective cross-sectional study from Qatar.

Qatar medical journal
2025

Association between trisomy 21 and 'puff of smoke' with an unusual presentation of transient ischaemic attack.

BMJ case reports
Ver todos os 13.105 no EuropePMC

Associações

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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. The quality of life of parents of children with disabilities in Saudi Arabia: a systematic review.
    Frontiers in pediatrics· 2026· PMID 41867922mais citado
  2. The evolving landscape of CAR T cell therapy in children and young adults with B cell acute lymphoblastic leukemia.
    Molecular therapy. Oncology· 2026· PMID 41858754mais citado
  3. Sucking Patterns in Infants with Down Syndrome admitted to a Level 4 Neonatal Intensive Care Unit.
    Puerto Rico health sciences journal· 2026· PMID 41842887mais citado
  4. Increased dendritic inhibition of dentate gyrus granule cells in a mouse model of Down syndrome.
    Frontiers in cellular neuroscience· 2026· PMID 41835966mais citado
  5. Selective chr21 homolog silencing reveals polymorphisms influence the epigenetic silencing and functional dosage of RWDD2B.
    American journal of human genetics· 2026· PMID 41831439mais citado
  6. DYRK1A and Parkinson's disease, facts and hypotheses.
    Neurobiol Dis· 2026· PMID 41991085recente
  7. Questions Matter: Investigating the Role of Caregiver Interactions in Children With Down Syndrome.
    Am J Speech Lang Pathol· 2026· PMID 41983794recente
  8. Association of Childhood Acute Leukemia With Autoimmune Diseases.
    Int J Cancer· 2026· PMID 41981796recente
  9. Community-acquired pneumonia mimicking tuberculosis in a patient with Down syndrome treated with adjunctive injectable corticosteroids.
    BMJ Case Rep· 2026· PMID 41980796recente
  10. Delayed diagnosis of congenital duodenal obstruction in early adolescence in a patient with Down syndrome and autism spectrum disorder.
    BMJ Case Rep· 2026· PMID 41980792recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:870(Orphanet)
  2. OMIM OMIM:190685(OMIM)
  3. MONDO:0008608(MONDO)
  4. Busca completa no PubMed(PubMed)
  5. Artigo Wikipedia(Wikipedia)
  6. Q47715(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 Down
Compêndio · Raras BR

Síndrome Down

ORPHA:870 · MONDO:0008608
🇧🇷 Brasil SUS
Internações
12.890/ano
Prevalência BR
1:700
Custo SUS
R$ 3.450/internação
Dados
DATASUS 2024
Geral
Prevalência
1-5 / 10 000
Herança
Not applicable
CID-10
Q90.0 · Trissomia 21, não-disjunção meiótica
CID-11
Ensaios
34 ativos
Início
Antenatal, Neonatal
Prevalência
0.0 (Worldwide)
MedGen
UMLS
C0013080
Wikidata
Wikipedia
Papers 10a
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