Raras
Buscar doenças, sintomas, genes...
Síndrome CACH congênito ou da infância precoce
ORPHA:157713CID-10 · E75.2CID-11 · 8A44.3DOENÇA RARA
Mantido por Agente Raras·Colaborar como especialista →

Introdução

O que você precisa saber de cara

📋

Doença neurodegenerativa rara com início congênito ou na infância precoce, causada por mutações nos genes EIF2B. Caracteriza-se por leucodistrofia, atraso no desenvolvimento, convulsões e disfunção neurológica progressiva.

🏥
SUS: Cobertura parcialScore: 40%
Centros em: PA, PE, BA, CE, PB +10CID-10: E75.2
🇧🇷Dados SUS / DATASUS2024
890
internações/ano
R$ 45.670
custo médio/internação
ESTADOS COM MAIS INTERNAÇÕES
SPRJMGRSPR
PROCEDIMENTOS SIGTAP (8)
0202010279
Dosagem de aminoácidos (erros inatos)metabolic_test
0202010295
Dosagem de ácidos orgânicos na urinagenetic_test
0202010490
Teste de triagem para erros inatos do metabolismonewborn_screening
0202010694
Sequenciamento completo do exoma (WES)enzyme_replacement
0202080013
Teste do pezinho (triagem neonatal)rehabilitation
0303050101
Infusão de imiglucerase (Gaucher)
+2 outros procedimentos
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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

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Últimos 10 anos200publicações
Pico2026192 papers
Linha do tempo
2026Hoje · 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

Genes associados

5 genes identificados com associação a esta condição.

Autosomal recessive
EIF2B3Translation initiation factor eIF2B subunit gammaDisease-causing germline mutation(s) inRestrito
FUNÇÃO

Acts as a component of the translation initiation factor 2B (eIF2B) complex, which catalyzes the exchange of GDP for GTP on the eukaryotic initiation factor 2 (eIF2) complex gamma subunit (PubMed:25858979, PubMed:27023709, PubMed:31048492). Its guanine nucleotide exchange factor activity is repressed when bound to eIF2 complex phosphorylated on the alpha subunit, thereby limiting the amount of methionyl-initiator methionine tRNA available to the ribosome and consequently global translation is re

LOCALIZAÇÃO

Cytoplasm, cytosol

VIAS BIOLÓGICAS (1)
Recycling of eIF2:GDP
MECANISMO DE DOENÇA

Leukoencephalopathy with vanishing white matter 3

An autosomal recessive brain disease characterized by neurological features including progressive cerebellar ataxia, spasticity, and cognitive deficits. Brain imaging shows abnormal white matter that vanishes over time and is replaced by cerebrospinal fluid. Disease severity ranges from fatal infantile forms to adult forms without neurological deterioration. The disease is progressive with, in most individuals, additional episodes of rapid deterioration following febrile infections or minor head trauma. Death may occurs after a variable period after disease onset, usually following an episode of fever and coma. A subset of affected females with milder forms of the disease who survive to adolescence exhibit ovarian dysfunction. This variant of the disorder is called ovarioleukodystrophy.

VIAS REACTOME (1)
EXPRESSÃO TECIDUAL(Ubíquo)
Músculo esquelético
31.1 TPM
Nervo tibial
26.6 TPM
Fibroblastos
25.3 TPM
Testículo
24.9 TPM
Cervix Ectocervix
23.6 TPM
OUTRAS DOENÇAS (6)
leukoencephalopathy with vanishing white matter 3juvenile or adult CACH syndromeobsolete ovarioleukodystrophycongenital or early infantile CACH syndrome
HGNC:3259UniProt:Q9NR50
EIF2B4Translation initiation factor eIF2B subunit deltaDisease-causing germline mutation(s) inTolerante
FUNÇÃO

Acts as a component of the translation initiation factor 2B (eIF2B) complex, which catalyzes the exchange of GDP for GTP on eukaryotic initiation factor 2 (eIF2) gamma subunit (PubMed:25858979, PubMed:27023709, PubMed:31048492). Its guanine nucleotide exchange factor activity is repressed when bound to eIF2 complex phosphorylated on the alpha subunit, thereby limiting the amount of methionyl-initiator methionine tRNA available to the ribosome and consequently global translation is repressed (Pub

LOCALIZAÇÃO

Cytoplasm, cytosol

VIAS BIOLÓGICAS (1)
Recycling of eIF2:GDP
MECANISMO DE DOENÇA

Leukoencephalopathy with vanishing white matter 4

An autosomal recessive brain disease characterized by neurological features including progressive cerebellar ataxia, spasticity, and cognitive deficits. Brain imaging shows abnormal white matter that vanishes over time and is replaced by cerebrospinal fluid. Disease severity ranges from fatal infantile forms to adult forms without neurological deterioration. The disease is progressive with, in most individuals, additional episodes of rapid deterioration following febrile infections or minor head trauma. Death may occurs after a variable period after disease onset, usually following an episode of fever and coma. A subset of affected females with milder forms of the disease who survive to adolescence exhibit ovarian dysfunction. This variant of the disorder is called ovarioleukodystrophy.

VIAS REACTOME (1)
EXPRESSÃO TECIDUAL(Ubíquo)
Testículo
93.0 TPM
Cervix Endocervix
68.4 TPM
Próstata
65.7 TPM
Nervo tibial
65.3 TPM
Cólon sigmoide
60.3 TPM
OUTRAS DOENÇAS (6)
leukoencephalopathy with vanishing white matter 4late infantile CACH syndromejuvenile or adult CACH syndromecongenital or early infantile CACH syndrome
HGNC:3260UniProt:Q9UI10
EIF2B1Translation initiation factor eIF2B subunit alphaDisease-causing germline mutation(s) inTolerante
FUNÇÃO

Acts as a component of the translation initiation factor 2B (eIF2B) complex, which catalyzes the exchange of GDP for GTP on eukaryotic initiation factor 2 (eIF2) gamma subunit (PubMed:25858979, PubMed:27023709, PubMed:31048492). Its guanine nucleotide exchange factor activity is repressed when bound to eIF2 complex phosphorylated on the alpha subunit, thereby limiting the amount of methionyl-initiator methionine tRNA available to the ribosome and consequently global translation is repressed (Pub

LOCALIZAÇÃO

Cytoplasm, cytosol

VIAS BIOLÓGICAS (1)
Recycling of eIF2:GDP
MECANISMO DE DOENÇA

Leukoencephalopathy with vanishing white matter 1

An autosomal recessive brain disease characterized by neurological features including progressive cerebellar ataxia, spasticity, and cognitive deficits. Brain imaging shows abnormal white matter that vanishes over time and is replaced by cerebrospinal fluid. Disease severity ranges from fatal infantile forms to adult forms without neurological deterioration. The disease is progressive with, in most individuals, additional episodes of rapid deterioration following febrile infections or minor head trauma. Death may occurs after a variable period after disease onset, usually following an episode of fever and coma. A subset of affected females with milder forms of the disease who survive to adolescence exhibit ovarian dysfunction. This variant of the disorder is called ovarioleukodystrophy.

VIAS REACTOME (1)
EXPRESSÃO TECIDUAL(Ubíquo)
Útero
67.5 TPM
Cervix Endocervix
63.4 TPM
Linfócitos
62.4 TPM
Cervix Ectocervix
61.6 TPM
Ovário
59.6 TPM
OUTRAS DOENÇAS (5)
leukoencephalopathy with vanishing white matter 1juvenile or adult CACH syndromecongenital or early infantile CACH syndromelate infantile CACH syndrome
HGNC:3257UniProt:Q14232
EIF2B5Translation initiation factor eIF2B subunit epsilonDisease-causing germline mutation(s) inRestrito
FUNÇÃO

Acts as a component of the translation initiation factor 2B (eIF2B) complex, which catalyzes the exchange of GDP for GTP on eukaryotic initiation factor 2 (eIF2) gamma subunit (PubMed:25858979, PubMed:27023709, PubMed:31048492). Its guanine nucleotide exchange factor activity is repressed when bound to eIF2 complex phosphorylated on the alpha subunit, thereby limiting the amount of methionyl-initiator methionine tRNA available to the ribosome and consequently global translation is repressed (Pub

LOCALIZAÇÃO

Cytoplasm, cytosol

VIAS BIOLÓGICAS (1)
Recycling of eIF2:GDP
MECANISMO DE DOENÇA

Leukoencephalopathy with vanishing white matter 5

An autosomal recessive brain disease characterized by neurological features including progressive cerebellar ataxia, spasticity, and cognitive deficits. Brain imaging shows abnormal white matter that vanishes over time and is replaced by cerebrospinal fluid. Disease severity ranges from fatal infantile forms to adult forms without neurological deterioration. The disease is progressive with, in most individuals, additional episodes of rapid deterioration following febrile infections or minor head trauma. Death may occurs after a variable period after disease onset, usually following an episode of fever and coma. A subset of affected females with milder forms of the disease who survive to adolescence exhibit ovarian dysfunction. This variant of the disorder is called ovarioleukodystrophy.

VIAS REACTOME (1)
EXPRESSÃO TECIDUAL(Ubíquo)
Cérebro - Hemisfério cerebelar
71.5 TPM
Cerebelo
70.8 TPM
Cervix Endocervix
59.6 TPM
Pituitária
59.6 TPM
Próstata
59.6 TPM
OUTRAS DOENÇAS (6)
leukoencephalopathy with vanishing white matter 5juvenile or adult CACH syndromecongenital or early infantile CACH syndromelate infantile CACH syndrome
HGNC:3261UniProt:Q13144
EIF2B2Translation initiation factor eIF2B subunit betaDisease-causing germline mutation(s) inTolerante
FUNÇÃO

Acts as a component of the translation initiation factor 2B (eIF2B) complex, which catalyzes the exchange of GDP for GTP on eukaryotic initiation factor 2 (eIF2) gamma subunit (PubMed:25858979, PubMed:27023709, PubMed:31048492). Its guanine nucleotide exchange factor activity is repressed when bound to eIF2 complex phosphorylated on the alpha subunit, thereby limiting the amount of methionyl-initiator methionine tRNA available to the ribosome and consequently global translation is repressed (Pub

LOCALIZAÇÃO

Cytoplasm, cytosol

VIAS BIOLÓGICAS (1)
Recycling of eIF2:GDP
MECANISMO DE DOENÇA

Leukoencephalopathy with vanishing white matter 2

An autosomal recessive brain disease characterized by neurological features including progressive cerebellar ataxia, spasticity, and cognitive deficits. Brain imaging shows abnormal white matter that vanishes over time and is replaced by cerebrospinal fluid. Disease severity ranges from fatal infantile forms to adult forms without neurological deterioration. The disease is progressive with, in most individuals, additional episodes of rapid deterioration following febrile infections or minor head trauma. Death may occurs after a variable period after disease onset, usually following an episode of fever and coma. A subset of affected females with milder forms of the disease who survive to adolescence exhibit ovarian dysfunction. This variant of the disorder is called ovarioleukodystrophy.

VIAS REACTOME (1)
EXPRESSÃO TECIDUAL(Ubíquo)
Tireoide
37.5 TPM
Artéria tibial
26.8 TPM
Testículo
25.3 TPM
Fibroblastos
25.2 TPM
Glândula adrenal
22.0 TPM
OUTRAS DOENÇAS (6)
leukoencephalopathy with vanishing white matter 2juvenile or adult CACH syndromelate infantile CACH syndromecongenital or early infantile CACH syndrome
HGNC:3258UniProt:P49770

Medicamentos aprovados (FDA)

1 medicamento encontrado nos registros da FDA americana.

💊 Levothyroxine sodium (LEVOTHYROXINE SODIUM)
Ver no DailyMed/FDA

Variantes genéticas (ClinVar)

330 variantes patogênicas registradas no ClinVar.

🧬 EIF2B2: NM_014239.4(EIF2B2):c.677del (p.Met226fs) ()
🧬 EIF2B2: NM_014239.4(EIF2B2):c.875A>C (p.Glu292Ala) ()
🧬 EIF2B2: NM_014239.4(EIF2B2):c.694-59A>T ()
🧬 EIF2B2: NM_014239.4(EIF2B2):c.433+246A>T ()
🧬 EIF2B2: NM_014239.4(EIF2B2):c.284+2T>G ()
Ver todas no ClinVar

Vias biológicas (Reactome)

1 via biológica associada aos genes desta condição.

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 CACH congênito ou da infância precoce

Centros de Referência SUS

24 centros habilitados pelo SUS para Síndrome CACH congênito ou da infância precoce

Centros para Síndrome CACH congênito ou da infância precoce

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

Pesquisa e ensaios clínicos

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Publicações mais relevantes

Timeline de publicações
0 papers (10 anos)
#1

Complaints Involving Sonographers: What Three Decades of Cases From A Public New Zealand Database Can Teach Us.

Journal of medical radiation sciences2026 Mar 23

Este estudo neozelandês, que analisou 31 anos de queixas contra ultrassonografistas, revelou que são incidentes raros (apenas 15 casos investigados), sendo a falha na detecção de anomalias congênitas fetais a principal causa das preocupações levantadas. Para médicos e pacientes, é crucial entender que, embora os erros sejam incomuns, há uma responsabilidade coletiva entre o ultrassonografista e o radiologista pela precisão do relatório final do exame.

🇧🇷 traduzido
#2

Tyrosine Hydroxylase Deficiency Impairs TH Axonal Transport, Brain Function, and Neuronal Plasticity.

Journal of inherited metabolic disease2026 Mar

A deficiência de Tirosina Hidroxilase (THD), uma doença genética rara, causa distonia e parkinsonismo infantil devido à falha na produção de dopamina e outros neurotransmissores essenciais. Para médicos e pacientes, é crucial saber que este estudo demonstra que a redução da enzima TH no cérebro não se deve à degeneração neuronal, mas sim a um transporte axonal defeituoso da proteína. Essa descoberta, focada no mecanismo de transporte e na disrupção de circuitos cerebrais sem perda de neurônios, oferece insights valiosos para o prognóstico e o desenvolvimento de terapias mais direcionadas no futuro.

🇧🇷 traduzido
#3

Anaesthetic management of a paediatric patient with Goldenhar syndrome for oral rehabilitation and palatoplasty.

BMJ case reports2026 Mar 23

Este relato descreve a gestão anestésica de um paciente pediátrico com Síndrome de Goldenhar, uma condição rara que apresenta desafios significativos no manejo da via aérea e suporte ventilatório para procedimentos como reabilitação oral e palatoplastia. O sucesso do caso foi atribuído a uma avaliação pré-operatória minuciosa, planejamento detalhado da via aérea e estratégias de ventilação protetora. Para médicos e pacientes, o estudo sublinha a importância crucial de um planejamento anestésico individualizado em casos de anomalias craniofaciais e vertebrais, antecipando potenciais dificuldades na via aérea para reduzir significativamente os riscos perioperatórios.

🇧🇷 traduzido
#4

Prognostic significance of serum apelin-13 and galectin-3 concentrations as potential indicators of severity and mortality in pediatric acute respiratory distress syndrome.

The Turkish journal of pediatrics2026 Feb 27

Este estudo investigou a relação entre os biomarcadores apelin-13 e galectina-3 com a gravidade e mortalidade da Síndrome do Desconforto Respiratório Agudo Pediátrico (PARDS). Os resultados mostraram que os níveis séricos de galectina-3 foram significativamente mais altos em pacientes com PARDS grave e um preditor independente de mortalidade, enquanto a apelin-13 não teve a mesma relevância prognóstica. Isso sugere que a galectina-3 pode ser um indicador valioso para médicos avaliarem a severidade e o prognóstico em crianças com PARDS, embora mais estudos sejam necessários para confirmar seu uso clínico.

🇧🇷 traduzido
#5

Prevalence of persistent left superior vena cava in the general population: a systematic review with meta-analysis.

Anatomical science international2026 Mar 23

A veia cava superior esquerda persistente (VCSEP) é uma variação anatômica congênita relativamente rara, afetando cerca de 0,61% da população geral. Embora geralmente assintomática, sua presença é crucial para médicos, pois pode complicar procedimentos como acessos venosos centrais, implante de dispositivos cardíacos e cirurgias, exigindo atenção diagnóstica e procedural. Sua identificação é particularmente relevante quando se observa um seio coronário dilatado em exames de imagem.

🇧🇷 traduzido

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Anaesthetic management of a paediatric patient with Goldenhar syndrome for oral rehabilitation and palatoplasty.

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Prognostic significance of serum apelin-13 and galectin-3 concentrations as potential indicators of severity and mortality in pediatric acute respiratory distress syndrome.

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Fetal diagnosis and therapy
2026

Growth Guidance Surgery: Factors Associated With Complications.

Spine
2026

Respiratory syncytial virus - from discovery to vaccines.

Journal of medical microbiology
2026

Testing a Cochlear Implant Electrode Insertion Training System for Optimal Electrode Array Placement in Different Inner Ear Anatomies.

Journal of visualized experiments : JoVE
2026

Time Course of the Immune Response in a Preterm Infant With Congenital Syphilis Following Incomplete Maternal Treatment: A Case Report.

The Pediatric infectious disease journal
2026

Prevalence of persistent left superior vena cava in the general population: a systematic review with meta-analysis.

Anatomical science international
2026

Environmental and Lifestyle Exposures and Male Factor Subfertility Proportion Among Infertile Couples: A Clinic-Based Multicenter Cross-Sectional Analysis from Indian Male Factor Subfertility Evaluation (IM-FaST) Study.

Environmental science and pollution research international
2026

OPM-based fetal magnetocardiography: fetal cardiac time intervals in healthy pregnancies compared to postnatal ECGs.

Archives of gynecology and obstetrics
2026

CILP Inhibits hyaline cartilage fibrosis and chondrocyte ferroptosis via keap1-Nrf2 axis in early osteoarthritis exercise therapy.

Cellular and molecular life sciences : CMLS
2026

Silent complexity: a rare combination of polysplenia, cleft palate, retroaortic renal vein, and dorsal pancreatic agenesis.

Pediatric radiology
2026

Deep learning model for automated identification of ventrally positioned right hepatic artery in contrast-enhanced computed tomography of pediatric congenital biliary dilatation: development and clinical application.

Pediatric radiology
2026

Navigating the spectrum: a comprehensive approach to fetal lung abnormalities in ultrasound and magnetic resonance imaging.

Pediatric radiology
2026

An unusual case of Kabuki Syndrome with retinal ischaemia and neovascular glaucoma.

European journal of ophthalmology
2026

Visual Implicit Learning and Speech Recognition in Adult Post-Lingual Cochlear Implant Users.

Trends in hearing
2026

From patients to partners: Evaluating a co-designed website for congenital hypogonadotropic hypogonadism.

Endocrine connections
2026

Evaluation of the Child With Nystagmus: What to Do in the Age of Genetic Testing.

International ophthalmology clinics
2026

Pediatric Myasthenia Gravis.

International ophthalmology clinics
2026

Pediatric Cranial Nerve Palsies.

International ophthalmology clinics
2026

Update on Congenital Cranial Dysinnervation Disorders (CCDDs).

International ophthalmology clinics
2026

Using Optical Coherence Tomography in Pediatric Neuro-ophthalmology.

International ophthalmology clinics
2026

Congenital Optic Nerve Anomalies and Associated Systemic Conditions.

International ophthalmology clinics
2026

Dietary palmitic acid inhibits colorectal cancer progression through enhancing bisecting GlcNAc.

JCI insight
2026

Sexual functioning after the age of 40 in adults with moderate or severe congenital heart disease.

International journal of cardiology. Congenital heart disease
2025

Central Ray Synpolydactyly with Bilateral Medial Foot Polydactyly and Hydrocephalus: A Case Report.

Plastic and reconstructive surgery. Global open
2026

Beyond rhythm disorder: a rare case report of a young patient with mediastinal bronchogenic cyst.

Frontiers in cardiovascular medicine
2026

Perforated Meckel's Diverticulum With Dual Gastric and Pancreatic Heterotopia: A Pediatric Case Report.

Cureus
2026

Preoperative Considerations for Uterine Fibroid Removal in Patients With Mayer-Rokitansky-Küster-Hauser Syndrome and Klippel-Feil Syndrome: A Case Report.

Cureus
2026

Complete Diphallia With Associated Epispadias: A Rare Congenital Anomaly Diagnosed in Adulthood.

Cureus
2026

Congenital Protein C Deficiency Presenting as Neonatal Purpura Fulminans: A Report of Two Cases.

Cureus
2026

Clinicoradiological Dissociation in a Giant Lytic Posterior Fossa Epidermoid Cyst: A Case Report.

Cureus
2026

Congenital Hyperinsulinism in Neonates: Diagnostic Challenges and Management in Two Cases With KCNJ11 and ABCC8 Mutation.

Cureus
2026

Type I Thanatophoric Dysplasia: Clinical Outcome in the Absence of Molecular Genetic Confirmation: A Case Report.

Cureus
2026

Lipodystrophies in Clinical Practice: A Case Series From a Local Health Unit in Portugal.

Cureus
2026

Discovery of genetic susceptibility variants in pediatric and adult ependymoma.

Neuro-oncology advances
2026

Spatial and temporal dispersion of ventricular repolarization in pediatric patients with congenital long QT syndrome.

HeartRhythm case reports
2026

Septal fibroma as an unusual cause for variable heart block in a well infant.

HeartRhythm case reports
2026

Challenges and advances in ventricular leadless pacemaker implantation for patients with single ventricle physiology: A case series.

HeartRhythm case reports
2026

Fetal echocardiography combined with serum biomarkers for early diagnosis of congenital heart disease and birth defect risk prediction.

American journal of translational research
2025

Zero Fluoroscopy Ablation of Arrhythmias in Patients With Congenital Heart Disease.

Journal of arrhythmia
2026

Bronchial Compression Following Surgical and Transcatheter Interventions for Coarctation of the Aorta.

Journal of the Society for Cardiovascular Angiography & Interventions
2026

Retrospective Analysis of Burden of Illness of Congenital Pulmonary Valve Disease in a Large, Commercially Insured US Population.

Journal of health economics and outcomes research
2026

Marked clinical and haemodynamic improvement with sotatercept in severe refractory pulmonary arterial hypertension associated with corrected complex congenital heart disease.

Respiratory medicine case reports
2026

Candidate Genes for Non-Syndromic Pediatric Cataracts.

Clinical ophthalmology (Auckland, N.Z.)
2026

Gallbladder mucinous cystic neoplasm: Diagnostic challenges and multimodality imaging correlation.

Radiology case reports
2026

Pelvic pain and a missing kidney: Unveiling OHVIRA syndrome with a tubo-ovarian abscess.

Radiology case reports
2026

Prevalence of testicular disorders in dogs and cats in Fortaleza from 2020 to 2023.

Animal reproduction
2026

Midline congenital upper lip sinus: a rare clinical case with analytical review of diagnostic and therapy strategies.

Frontiers in pediatrics
2026

Case Report: Pediatric chylous ascites beyond congenital malformations-infectious causes and nutritional management with a literature review.

Frontiers in pediatrics
2026

Long-term survival and complications of Fontan patients: where do we stand?

American journal of cardiovascular disease
2026

Structural variants in human congenital heart disease disrupt distal genomic regulatory contacts of developmental genes.

bioRxiv : the preprint server for biology
2026

Crop-OCT: a Fully Integrated Imageomics Pipeline to Identify Regional and Focal Retinopathy in Murine Models.

bioRxiv : the preprint server for biology
2026

Patient-reported outcome using EFAS score in skeletally mature clubfoot patients treated at birth with Ponseti's technique.

Journal of children's orthopaedics
2026

Etiological Diagnosis and Disease Course of Birk-Barel Syndrome in an Adult Woman with a KCNK9 Variant.

International medical case reports journal
2025

Genetic variants through exome sequencing in Spanish patients affected by primary congenital glaucoma and juvenile open-angle glaucoma.

Molecular vision
2025

Genetic phenotypic characteristics and inheritance patterns of patients with achromatopsia at a large academic institution and a review of the literature and gene therapies.

Molecular vision
2025

Molecular insights into foveal hypoplasia: development, genetics, mechanisms, and models.

Molecular vision
2026

Global Perspectives in Plastic Surgery: View of Plastic Surgeons From Vietnam.

Plastic and reconstructive surgery. Global open
2026

Global Perspectives in Plastic Surgery: View of Plastic Surgeons From Peru.

Plastic and reconstructive surgery. Global open
2026

Global Perspectives in Plastic Surgery: View of Plastic Surgeons From Ecuador.

Plastic and reconstructive surgery. Global open
2026

Global Perspectives in Plastic Surgery: View of Plastic Surgeons From Uganda.

Plastic and reconstructive surgery. Global open
2026

Corrigendum to "Smooth muscle cell (SMC) Specific SNRK deletion in mouse causes congenital short bowel syndrome and premature death" [Biochem. Biophys. Rep. 44 (2025) 102298].

Biochemistry and biophysics reports
2026

Maternal prenatal stress is associated with altered placental microstructure in low-risk pregnancies and pregnancies with Congenital Heart Disease.

medRxiv : the preprint server for health sciences
2026

High burden of maternal and congenital syphilis in Lima, Peru: an epidemiological analysis from 2023-2025.

medRxiv : the preprint server for health sciences
2026

Timing of Intervention and Long-Term Outcomes in Mild Congenital Heart Disease: A 35-Year Study From the Pediatric Cardiac Care Consortium.

Circulation. Cardiovascular interventions
2026

Hyperactive GNAQ in endothelial cells causes blood vessel malformation in developing mouse skin.

Development (Cambridge, England)
2026

Congenital Cytomegalovirus-Induced Bone Marrow Suppression.

Clinical pediatrics
2026

A New Patient With SPOUT1-Related Neurodevelopmental Disorder Identified by Genomic Data Re-Analysis: Novel Phenotypic Features and Literature Review.

American journal of medical genetics. Part A
2026

Complex Genetic Architecture in RASopathies: Constitutional PTPN11 and Mosaic RIT1 Pathogenic Variants Underlying Severe Noonan Syndrome With Adult-Onset Acute Myeloid Leukemia.

American journal of medical genetics. Part A
2026

Nanocarriers for potential treatment of sensorineural hearing loss and retinitis in congenital cytomegalovirus.

Nanomedicine (London, England)
2026

Atrial Fibrillation Ablation Outcomes by Hospital Academic Status.

Catheterization and cardiovascular interventions : official journal of the Society for Cardiac Angiography & Interventions
2026

Hypertrophic Cardiomyopathy as a Key Feature of MRAS-Related Noonan Syndrome: New Case and Comprehensive Literature Review.

Prenatal diagnosis
2026

Annotating rare variants: a challenge that has not been completely resolved.

Annales d'endocrinologie
2026

How has genetics changed the diagnosis and the management of differences of sex development?

Annales d'endocrinologie
2026

Congenital Hydrocephalus in Central and Southern Tunisia: A 15-Year Retrospective Study of 102 Patients on the Clinical Spectrum, Management, and High Burden of Neural Tube Defects.

World neurosurgery
2026

Career-Long Earnings in Cardiothoracic Surgery: A Comparative Net Present Value Analysis.

The Annals of thoracic surgery
2026

Retinal gene therapies for inherited ocular diseases: Translational delivery strategies from bench to bedside.

Journal of controlled release : official journal of the Controlled Release Society
2026

Ring Chromosome 6: A Case Report and Literature Review.

Journal of gynecology obstetrics and human reproduction
2026

Maternal hyperoxygenation in foetal congenital heart disease: current evidence and clinical uncertainties.

Journal of obstetrics and gynaecology : the journal of the Institute of Obstetrics and Gynaecology
2026

Long-Term Audiological Outcomes After Surgical Repair for Congenital Aural Stenosis.

Otolaryngology--head and neck surgery : official journal of American Academy of Otolaryngology-Head and Neck Surgery
2026

Giant parieto-occipital encephaloceles: always a dismal prognosis? A case report and review of the literature.

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

Assessment of artificial intelligence-based control algorithms to be implemented in an affordable transradial myoelectric prosthesis.

Scientific reports
2026

COVID-19 infection and associated death among hospitalized neonates: a national retrospective study.

BMC infectious diseases
2026

Laparoscopic management of congenital pyloric Atresia: A case series and surgical perspective.

Pediatrics and neonatology
2026

Etiologies of Wrist Arthritis in the Young Patient.

Hand clinics
2026

Is it useful to repeat the hearing screening test before hospital discharge?

Acta otorrinolaringologica espanola
2026

KCNH2 Duplication Variant (c.2164_2181dup) Associated with Sudden Cardiac Death in a Family with Congenital Long QT Syndrome.

The Canadian journal of cardiology
2026

Early donor-specific antibodies in pediatric patients with Fontan circulation after heart transplant.

Transplant immunology
2026

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

The Journal of thoracic and cardiovascular surgery
2026

Managing heavy menstrual bleeding in adolescents with bleeding disorders: Outcomes from a pragmatic LMIC approach.

Blood cells, molecules & diseases
2026

Hearing assessment of Egyptian children with permanent congenital hypothyroidism: A single-center experience.

International journal of pediatric otorhinolaryngology
2026

International Experience of Transcatheter Sinus Venosus Defect Closure in Children and Adolescents.

Pediatric cardiology
2026

Progressive Subvalvular Right Ventricular Outflow Tract Obstruction With a Single Coronary Artery in an Adult.

JACC. Case reports
2026

Lymphocytic Choriomeningitis Virus Seroprevalence among Urban Pregnant Women and Newborns, Philadelphia, Pennsylvania, USA, 2021.

Emerging infectious diseases
2026

Long-term results after senning and mustard operations for d-Transposition of the great arteries: Atrial switch should remain in armamentarium.

European journal of cardio-thoracic surgery : official journal of the European Association for Cardio-thoracic Surgery
2026

Coronary artery anomalies in common arterial trunk: proposal of a new anatomical classification.

Interdisciplinary cardiovascular and thoracic surgery
2026

MRI-based Quantification of Ossification Centers in the Human Fetal Atlas and Axis Vertebrae.

Current medical imaging
2026

Double Jeopardy - A Case of Overlapping Takotsubo Syndrome and Spontaneous Coronary Dissection.

Prilozi (Makedonska akademija na naukite i umetnostite. Oddelenie za medicinski nauki)
2026

PARTIAL: study protocol for a clinical and cost-effectiveness of complex PARTIAL vs radical nephrectomy for clinically localised renal cell carcinoma randomised trial.

Trials
2026

Severe Aortic Regurgitation with New Congestive Heart Failure Following Fetal Aortic Valvuloplasty - A Case Report.

Pediatric cardiology
2026

Children with congenital heart disease (CHD): families coping strategies and support systems.

Pediatric research
2026

SERPINC1 p.M313T variant induces aberrant O-Glycosylation and leads to conformational instability-related transient antithrombin deficiency.

Thrombosis and haemostasis
2026

Cone-Beam CT of the Temporal Bone: Normative Linear Biometry of Inner Ear Structures.

AJNR. American journal of neuroradiology
2026

Results of a Preoperative Screening Brain Magnetic Resonance Imaging Protocol in Neonates Undergoing Cardiopulmonary Bypass.

The Annals of thoracic surgery
2026

Automated Three-dimensional Transthoracic Echocardiography for Right Ventricular Assessment in Children with Congenital and Acquired Heart Disease: Validation Against Cardiac MR.

Journal of the American Society of Echocardiography : official publication of the American Society of Echocardiography
2026

Advancing ABO-Histocompatibility: Impact of Multiplexed ABO Antibody Immunoassay to Increase Precision in Pediatric Heart Transplantation.

The Journal of heart and lung transplantation : the official publication of the International Society for Heart Transplantation
2026

Ocular motor atavisms: the evolutionary basis of infantile strabismus and nystagmus.

Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus
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

Early brainstem volume and the need for respiratory and vasoactive support in very preterm infants.

Early human development
2026

Mechanism of benzophenone-3 in promoting proliferation and migration of prostate cancer cells via the acyl-CoA dehydrogenase 9 axis.

Ecotoxicology and environmental safety
2026

Identification of new molecular mechanisms of antithrombin deficiency: six new SERPINC1 variants in a Polish cohort.

Thrombosis research
2026

Post-discharge feeding problems and associated factors in children undergoing congenital heart surgery: A descriptive cross-sectional study.

Journal of pediatric nursing
2026

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

Medicine
2026

A Review of Pituitary Duplication and First Report of Associated Precocious Puberty in a Boy.

Hormone research in paediatrics
2026

Nuclear YAP Activation in an Ex Vivo Murine Lung Model of Fetal Tracheal Occlusion.

Fetal diagnosis and therapy
2026

Immune mechanisms of congenital Zika syndrome.

Science immunology
2026

Prevalence and characteristics of scoliosis among ethiopian schoolchildren aged 6-15 Years: A school-based cross-sectional study.

PloS one
2026

Femoral Distraction Osteogenesis in Fibular Hemimelia: Risks and Advantages Using Magnetically Driven Antegrade Intramedullary Lengthening Nails.

The Journal of the American Academy of Orthopaedic Surgeons
2026

Prenatal Syphilis Screening Mandates and Maternal Syphilis Case Detection.

JAMA health forum
2026

Multimodality Assessment of a Culprit LAD Myocardial Bridge in a Patient With Congenital Heart Disease.

JACC. Case reports
2026

Pedicled Anterolateral Thigh Flap Reconstruction of Exposed Renal Allograft.

Annals of plastic surgery
2026

Children born to mothers receiving chronic dialysis, a national French cohort (2013-2021).

Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association
2026

Novel CYP17A1 variants and functional validation in a large Chinese cohort of complete 17α-hydroxylase deficiency.

The Journal of clinical endocrinology and metabolism
2026

Balancing Efficacy and Risks: A Systematic Review and Meta-Analysis of Concomitant Surgical Ablation for Atrial Fibrillation and Valve Surgery.

Cardiology in review
2026

3D geometric morphometrics in veterinary science: applications, standardization, and future directions.

Polish journal of veterinary sciences
2026

Partial Anomalous Pulmonary Venous Return in Lung Cancer Surgery: Diagnostic Challenges and Surgical Considerations in Two Cases.

The Tokai journal of experimental and clinical medicine
2025

Notch signaling pathway and heart development, congenital heart disease, and myocardial regeneration.

Frontiers in bioengineering and biotechnology
2026

Intraoperative sodium range affects white matter microstructure in neonatal congenital heart disease.

International journal of cardiology. Congenital heart disease
2026

Safety, feasibility and impact of a 12-week yoga program in adults Fontan patients: a pilot study.

International journal of cardiology. Congenital heart disease
2026

Percutaneous Transcatheter Closure of Multiple Ostium Secundum Atrial Septal Defects: A Case Report.

Cureus
2026

Main branches pulmonary artery stenting in congenital heart diseases: a case series.

Frontiers in cardiovascular medicine
2026

Crystal Violet Staining Facilitates Boundary Recognition in the Removal of Spinal Arachnoid Pathology.

NMC case report journal
2026

EAM-CT Merge Guiding a Safe Transeptal Puncture in Atrial Tachycardia Ablation in a Intracardiac Fontan Patient.

Clinical case reports
2026

Less Invasive Acute Rejection Surveillance After Pediatric Heart Transplantation: Experiences From a Low-intensity Biopsy Center.

Transplantation direct
2026

Neonatal pulmonary vascular remodeling induced by increased blood flow is associated with an antiviral-like immune signature.

Frontiers in immunology
2026

A Phase 1/2, Open-Label, Single-Dose, Multicenter Study to Evaluate the Pharmacokinetics and Safety of Human Plasma-Derived Protein C Concentrate in Japanese Patients with Severe Congenital Protein C Deficiency (SCPCD).

Journal of blood medicine
2026

Unclassified complex urogenital anomaly in a 3-year-old girl: Diagnostic and surgical challenges.

Urology case reports
2025

Meckel-Gruber syndrome: a rare and fatal congenital disorder (case report).

The Pan African medical journal
2026

The neglected role of partner treatment in congenital syphilis control in Brazil: nationwide evidence from 2007 to 2023.

Lancet regional health. Americas
2026

Single-stage surgical modification for neonatal aortic coarctation and ventricular septal defect: a case report.

European heart journal. Case reports
2025

Implications of segmental and lobar tracheobronchial anomalies in congenital heart disease: a 12-year retrospective CT analysis.

Frontiers in radiology
2026

Surprising intraoperative discovery of a Ladd's band in a patient with midgut volvulus associated with intestinal malrotation: a case report.

Journal of surgical case reports
2026

Elective percutaneous stellate ganglion block for prediction of the clinical outcome of robotic bilateral cardiac sympathetic denervation in a patient with Andersen-Tawil syndrome: A case report.

European journal of anaesthesiology
2026

Real-time acoustic monitoring of perinatal volume fluctuations in a pregnant woman after complex congenital heart disease surgery: a case report.

European heart journal
2026

UPDhmm: detecting Uniparental Disomy from NGS trio data.

Bioinformatics (Oxford, England)
2026

A safe and efficacious inactivated vaccine aids prevent reproductive failure associated with congenital toxoplasmosis in ovine.

Veterinary research
2026

Prenatal characteristics and factors contributing to congenital syphilis: A descriptive analysis of cases reported to the Canadian Paediatric Surveillance Program June 2021 through May 2023.

Canadian journal of public health = Revue canadienne de sante publique
2026

Disease burden and associated factors among caregivers of children with congenital heart disease at tertiary hospitals in Addis Ababa, Ethiopia.

Scientific reports
2026

TF-VSF: A Novel Training-Free Visual-Semantic Fusion Rare Medical Morning Glory Syndrome Diseases Severity Assessment Method.

Journal of imaging informatics in medicine
2026

Management of Tuberous Breasts by Exclusive Fat Grafting.

Aesthetic plastic surgery
2026

Beyond iron deficiency: A comprehensive national survey of anaemia etiology in Sri Lankan young adults.

Scientific reports
2026

Cryo-EM structure of TRPM1 reveals a non-canonical architecture with an inverted transmembrane domain.

Nature communications
2026

Acetylation-triggered degradation of MSX1 impairs palatal development.

Cell death discovery
2026

Fetal Fentanyl Syndrome: An Opportunity to Quantify the Risk in Prospective Cohorts of Patients With Substance Use Disorder.

Journal of addiction medicine
2026

Terlipressin Therapy for Portal Hyperperfusion Secondary to Portal Vein Size Discrepancy After Pediatric Liver Transplant.

Pediatric transplantation
2026

Urothelial Carcinoma of the Bladder Following BK Virus Infection in a Pediatric Kidney Transplant Recipient.

Pediatric transplantation
2026

Association between childhood physical activity and adulthood sedentary behavior and physical activity in patients with congenital heart disease.

The Canadian journal of cardiology
2026

Mechanical atrioventricular valve replacement during and after the single ventricle palliation.

The Annals of thoracic surgery
2026

Comparison of free-running whole-heart 5D and 4D flow imaging to standard 2D flow in patients with congenital heart disease.

Journal of cardiovascular magnetic resonance : official journal of the Society for Cardiovascular Magnetic Resonance
2026

Congenital cystic eye and coloboma with a cyst hybrid phenotype: a developmental continuum.

Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus
2026

Laminin-α2 is required for the maintenance of the myotendinous junction in vivo.

Matrix biology : journal of the International Society for Matrix Biology
2026

Summary of the 2025 European Society of Cardiology Guidelines for the management of cardiovascular disease and pregnancy.

International journal of obstetric anesthesia
2026

Limb position effect in myoelectric control: Strategies for optimisation and standardisation.

Journal of neural engineering
2026

Early pregnancy ultrasound as a tool for detecting fetal structural abnormalities: insights from a retrospective study.

Future science OA
2026

Retroperitoneal-First Laparoscopic Approach (Retlap) for Bile Duct Resection in Pancreaticobiliary Maljunction (PBM): A Novel and Reasonable Approach to Intrapancreatic Bile Duct.

Annals of surgical oncology
2026

Clinico-genetic heterogeneity in Pakistani families affected with muscular dystrophies.

Molecular biology reports
2026

The weaponization of medical referrals and evacuations during the genocide in Gaza: a brief report and call to action.

The Journal of the Egyptian Public Health Association
2026

Hematopoietic Stem Cell Transplantation in a Fontan Patient With Myelodysplastic Syndrome.

JACC. Case reports
2026

Reconstruction of Concha-Type Microtia Using a Crescent Costal Framework and Residual Auricular Cartilage.

Journal of otolaryngology - head & neck surgery = Le Journal d'oto-rhino-laryngologie et de chirurgie cervico-faciale
2026

Strengthening Education for Advanced Practice Providers in Adult Congenital Heart Disease Care.

JACC. Case reports
2026

Multi-Parametric MRI Approach at 3 T and 7 T for Assessing Skeletal Muscle Pathology in Myofibrillar Myopathies: A Pilot Study.

Journal of cachexia, sarcopenia and muscle
2026

UFMylation: A Key Role in Maintaining Endoplasmic Reticulum Homeostasis.

FASEB journal : official publication of the Federation of American Societies for Experimental Biology
2026

A De Novo Variant in NALCN Associated With Arthrogryposis and Neonatal Respiratory Failure: A Case Report.

Pediatric pulmonology
2026

Neurodevelopmental assessment at 24 months in infants with esophageal atresia: A prospective cohort study.

Journal of pediatric gastroenterology and nutrition
2026

Current concepts in Falciform ligament hernia diagnosis and treatment. A systematic review.

Acta chirurgica Belgica

Associações

Organizações que acompanham esta doença — pra ter apoio e orientação

Ainda não temos associações cadastradas para Síndrome CACH congênito ou da infância precoce.

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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

Ainda não achamos doenças com sintomas parecidos o suficiente.

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. Complaints Involving Sonographers: What Three Decades of Cases From A Public New Zealand Database Can Teach Us.
    Journal of medical radiation sciences· 2026· PMID 41873008mais citado
  2. Tyrosine Hydroxylase Deficiency Impairs TH Axonal Transport, Brain Function, and Neuronal Plasticity.
    Journal of inherited metabolic disease· 2026· PMID 41872043mais citado
  3. Anaesthetic management of a paediatric patient with Goldenhar syndrome for oral rehabilitation and palatoplasty.
    BMJ case reports· 2026· PMID 41871901mais citado
  4. Prognostic significance of serum apelin-13 and galectin-3 concentrations as potential indicators of severity and mortality in pediatric acute respiratory distress syndrome.
    The Turkish journal of pediatrics· 2026· PMID 41871558mais citado
  5. Prevalence of persistent left superior vena cava in the general population: a systematic review with meta-analysis.
    Anatomical science international· 2026· PMID 41870825mais citado
  6. Cumulative Antibiotic Exposure in Children with Spina Bifida.
    J Urol· 2026· PMID 41871317recente
  7. The Influence Pathway of the Burden on Caregivers of Children With Congenital Ear Malformations: An Analysis of the Mediating Effects of Social Support and Coping Mechanisms.
    J Craniofac Surg· 2026· PMID 41871291recente
  8. Research at the Paris Foundling Hospitals. Part 2: After the Revolution.
    Neonatology· 2026· PMID 41871223recente
  9. Catheter-based Foetal Cardiac Interventions (FCI) - Literature Review.
    Fetal Diagn Ther· 2026· PMID 41871212recente
  10. Growth Guidance Surgery: Factors Associated With Complications.
    Spine (Phila Pa 1976)· 2026· PMID 41871188recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:157713(Orphanet)
  2. MONDO:0015519(MONDO)
  3. GARD:16978(GARD (NIH))
  4. Variantes catalogadas(ClinVar)
  5. Q56013729(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

Compêndio · Raras BR

Síndrome CACH congênito ou da infância precoce

ORPHA:157713 · MONDO:0015519
🇧🇷 Brasil SUS
Internações
890/ano
Prevalência BR
1:60000
Custo SUS
R$ 45.670/internação
Dados
DATASUS 2024
Geral
CID-10
E75.2 · Outras esfingolipidoses
CID-11
Início
Infancy, Neonatal
MedGen
UMLS
C5680650
Wikidata
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