Raras
Buscar doenças, sintomas, genes...
Síndrome de holoprosencefalia-anomalias radio-cardio-renais
ORPHA:3186CID-10 · Q87.8OMIM 184705DOENÇA RARA

A Síndrome de Holoprosencefalia com Anomalias Cardíacas, Renais e Radiais é uma condição caracterizada por: * **Holoprosencefalia:** uma malformação grave do cérebro, onde ele não se desenvolve ou não se divide corretamente. * **Deficiência nos membros (braços e pernas), principalmente no lado do polegar:** isso pode incluir a falta dos polegares ou um encurtamento grave dos membros, chamado focomelia. * **Problemas no coração.** * **Malformações nos rins.** * **E ausência da vesícula biliar.**

Mantido por Agente Raras·Colaborar como especialista →

Introdução

O que você precisa saber de cara

📋

A Síndrome de Holoprosencefalia com Anomalias Cardíacas, Renais e Radiais é uma condição caracterizada por: * **Holoprosencefalia:** uma malformação grave do cérebro, onde ele não se desenvolve ou não se divide corretamente. * **Deficiência nos membros (braços e pernas), principalmente no lado do polegar:** isso pode incluir a falta dos polegares ou um encurtamento grave dos membros, chamado focomelia. * **Problemas no coração.** * **Malformações nos rins.** * **E ausência da vesícula biliar.**

Escala de raridade

CLASSIFICAÇÃO ORPHANET · BRASIL 2024
<1 / 1 000 000
Ultra-rara
<1/50k
Muito rara
1/20k
Rara
1/10k
Pouco freq.
1/5k
Incomum
1/2k
Prevalência
0.0
Worldwide
Casos conhecidos
4
pacientes catalogados
Início
Antenatal
+ neonatal
🏥
SUS: Cobertura mínimaScore: 35%
Centros em: SP, PR, SC, RS, ES +10CID-10: Q87.8
🇧🇷Dados SUS / DATASUS
PROCEDIMENTOS SIGTAP (5)
0202010503
Cariótipo — bandas G, Q ou Rgenetic_test
0202010600
Pesquisa de microdeleções/microduplicações por FISHlab_test
0202010694
Sequenciamento completo do exoma (WES)rehabilitation
0202010260
Dosagem de alfa-fetoproteína
0301070040
Atendimento em reabilitação — doenças raras
Você se identifica com essa condição?
O Raras está aqui pra te apoiar — com ou sem diagnóstico

Encontrou um erro ou informação desatualizada? Sugira uma correção →

Entender a doença

Do básico ao detalhe, leia no seu ritmo

Preparando trilha educativa...

Sinais e sintomas

O que aparece no corpo e com que frequência cada sintoma acontece

Partes do corpo afetadas

🦴
Ossos e articulações
7 sintomas
😀
Face
4 sintomas
🫘
Rins
3 sintomas
❤️
Coração
3 sintomas
👂
Ouvidos
3 sintomas
🧠
Neurológico
2 sintomas

+ 13 sintomas em outras categorias

Características mais comuns

90%prev.
Microcefalia
Muito frequente (99-80%)
90%prev.
Holoprosencefalia
Muito frequente (99-80%)
90%prev.
Aplasia do nariz
Muito frequente (99-80%)
90%prev.
Morfologia anormal da orelha externa
Muito frequente (99-80%)
90%prev.
Atresia do canal auditivo externo
Muito frequente (99-80%)
55%prev.
Aplasia/Hipoplasia do polegar
Frequente (79-30%)
37sintomas
Muito frequente (5)
Frequente (7)
Ocasional (15)
Sem dados (10)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 37 características clínicas mais associadas, ordenadas por frequência.

MicrocefaliaMicrocephaly
Muito frequente (99-80%)90%
HoloprosencefaliaHoloprosencephaly
Muito frequente (99-80%)90%
Aplasia do narizAplasia of the nose
Muito frequente (99-80%)90%
Morfologia anormal da orelha externaAbnormality of the outer ear
Muito frequente (99-80%)90%
Atresia do canal auditivo externoAtresia of the external auditory canal
Muito frequente (99-80%)90%

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Últimos 10 anos200publicações
Pico202463 papers
Linha do tempo
2026Hoje · 2026📈 2024Ano de pico
Publicações por ano (últimos 10 anos)

Encontrou um erro ou informação desatualizada? Sugira uma correção →

Genética e causas

O que está alterado no DNA e como passa nas famílias

🧬

Nenhum gene associado encontrado

Os dados genéticos desta condição ainda estão sendo catalogados.

Diagnóstico

Os sinais que médicos procuram e os exames que confirmam

Carregando...

Tratamento e manejo

Remédios, cuidados de apoio e o que precisa acompanhar

Carregando informações de tratamento...

Onde tratar no SUS

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

🇧🇷 Atendimento SUS — Síndrome de holoprosencefalia-anomalias radio-cardio-renais

Centros de Referência SUS

24 centros habilitados pelo SUS para Síndrome de holoprosencefalia-anomalias radio-cardio-renais

Centros para Síndrome de holoprosencefalia-anomalias radio-cardio-renais

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

Nenhum ensaio clínico registrado para esta condição.

🧪 Está conduzindo uma pesquisa?
Divulgue para pacientes e familiares que acompanham esta doença.
Divulgar pesquisa →

Publicações mais relevantes

Timeline de publicações
0 papers (10 anos)
#1

Detection of the Heterozygous Recurrent MAX p.(Arg60Gln) Variant in Two Females Confirms and Expands the Phenotypic Spectrum of Polydactyly-Macrocephaly Syndrome.

Clinical genetics2026 Apr

A recurrent de novo germline variant in the MAX gene, p.(Arg60Gln), has recently been associated with polydactyly-macrocephaly syndrome in six unrelated individuals. Affected individuals presented with progressive macrocephaly, post-axial polydactyly, developmental delay, autistic features and a series of craniofacial, brain, cardiac, ocular, and renal anomalies. Here, we describe two unrelated female probands with the known recurrent MAX variant, c.179G>A p.(Arg60Gln), who presented with the emerging phenotypes of the MAX-associated syndrome. We also propose that genitourinary abnormalities, including Mayer-Rokitanski-Kuster-Hauser syndrome in one individual, may constitute an expansion of the known phenotype. These findings contribute to the current knowledge regarding the phenotypic spectrum of MAX-associated polydactyly-macrocephaly syndrome.

#2

Ovarian Hormones Moderate Systolic Hypertension in Female Eln Haploinsufficient Mice.

American journal of physiology. Renal physiology2026 Mar 23

Hypertension is a hallmark of cardiovascular abnormalities associated with Williams syndrome (WS), a rare genetic disorder involving microdeletion of genes on human chromosome 7, including the elastin gene (ELN). Heterozygous deletion of Eln (Eln+/-) in mice recapitulates hypertension and arteriopathy associated with WS. Previously, differences in blood pressure elevation and sensitivity to dietary sodium were found to be less profound in female Eln+/- mice. Here, we determined whether ovarian hormones play a role in sex-related difference in blood pressure elevation resulting from Eln haploinsufficiency. Female Eln+/+ and Eln+/- mice instrumented with radiotelemetry devices were subjected to sham surgery or ovariectomy (OVX). We found that OVX lowered diastolic but not systolic blood pressure (SBP) in Eln+/- mice, resulting in increased pulse pressure. In Eln+/- mice, diuresis induced by acute volume expansion was blunted, while anti-natriuresis was exaggerated. Furthermore, amiloride lowered SBP and increased urinary Na+ excretion, suggesting that Eln+/--induced hypertension may be Na+-dependent. We conclude that increased Na+ and water retention by the kidney contribute to hypertension resulting from Eln haploinsufficiency. The underlying mechanism involves the alteration of ovarian hormone effects in the kidney and sustained signaling downstream of the V2 receptor, leading to increased ENaC activity and water reabsorption.

#3

Papilledema and Pseudopapilledema in Alagille Syndrome: A Case Report.

Neuro-ophthalmology (Aeolus Press)2026

Alagille syndrome (ALGS) is a rare, multisystem, autosomal dominant disorder of variable penetrance, typically dominated by the consequences of bile duct paucity and congenital heart disease. Neuro-ophthalmic findings include optic disc swelling and cerebral vascular anomalies. Here, we discuss the care of a lean young man with ALGS and extreme optic disc swelling. He had significant systemic co-morbidities, in the form of renal failure and anticoagulation after cardiac surgery. His disc swelling proved to be due to a combination of pseudopapilledema from ALGS glial proliferation with possible drusen, and true papilledema, with cerebrospinal fluid (CSF) opening pressure of 31 cm H2O at lumbar puncture. Despite renally adjusted acetazolamide and topiramate, field loss beyond blind spot enlargement emerged. CSF shunting was deemed unwise, due to the high revision rate which so often follows. Bilateral optic nerve sheath fenestration was therefore undertaken, and succeeded in reversing the new field loss. Disc swelling did not decline dramatically, due to the ALGS pseudopapilledema as well as the presumed chronicity of the patient's papilledema. Since pseudopapilledema and papilledema can co-exist in ALGS, it is important to adequately distinguish them, ensuring that the emerging visual threat from true papilledema is not overlooked. Systemic comorbidities of the syndrome will need thoughtful care from a co-ordinated multidisciplinary team when treating the papilledema. Screening for cerebral aneurysm is another important principle in the care of patients with ALGS.

#4

Transesophageal echocardiography (TEE)-guided management of post-myocardial infarction complications.

The international journal of cardiovascular imaging2026 Mar 09

Intramyocardial dissecting hematoma with cardiac rupture poses catastrophic risks following acute myocardial infarction (AMI). While transthoracic echocardiography (TTE) is standard for initial assessment, transesophageal echocardiography (TEE) provides critical anatomical delineation for surgical planning. A 78-year-old male with multiple cardiovascular risk factors presented with a three-day history of chest pain, diagnosed as ST-segment elevation myocardial infarction (STEMI) by electrocardiogram (ECG). TTE revealed segmental left ventricular wall motion abnormalities and cardiac troponin I (cTnI) levels (10.89 ng/ml) were markedly elevated. Despite guideline-directed antithrombotic therapy, he developed acute decompensated heart failure with progressive lower limb edema by day 9, at which point TTE revealed ventricular septal rupture (VSR) with contained perforation. Following 30 days of continuous renal replacement therapy (CRRT) for cardiorenal syndrome, definitive surgical management was undertaken: Intraoperative TEE guidance facilitated VSR repair with concomitant coronary artery bypass grafting (CABG), achieving postoperative hemodynamic stability. Regrettably, the patient suffered sudden respiratory and cardiac arrest in postoperative month 4, and succumbed a few days later. TEE provides indispensable high-resolution characterization of post-infarction intramyocardial dissection and perforation topography, enabling precise surgical navigation for mechanical complications. This case underscores its pivotal role in guiding definitive intervention for high-risk cardiac pathologies.

#5

Clinical Presentation and Long-Term Outcomes of Prune Belly Syndrome in a Tertiary Hospital.

Archivos espanoles de urologia2026 Jan

Prune belly syndrome (PBS) is a rare congenital disorder defined by deficient abdominal musculature, urinary tract anomalies and cryptorchidism. Clinical presentation is variable, and extrarenal malformations are common. A retrospective descriptive study of seven patients diagnosed with PBS between 1990 and 2024 in a tertiary-care hospital was carried out. Clinical, biochemical, radiological, auxological and surgical data were reviewed. All patients had megacystis and abdominal muscle hypoplasia. Megalourethra was observed in three (43%), cryptorchidism in six (86%), hydronephrosis in all cases and renal dysplasia in four (57%). Extrarenal anomalies included congenital heart disease in three patients (43%), musculoskeletal defects in three (43%) and other malformations in two (28%). Mean serum creatinine level was 0.83 mg/dL at birth and 1.30 mg/dL at the last follow-up. Two patients (28%) required clean intermittent catheterisation, and one (14%) underwent renal transplantation at 14 years. Surgical procedures included orchidopexy in five patients (71%), vesicostomy in four (57%) and Mitrofanoff appendicovesicostomy in one patient. PBS is a rare disorder with a heterogeneous clinical spectrum. This cohort revealed a high prevalence of cardiac anomalies. Renal dysplasia, recurrent urinary tract infections and delayed surgical intervention were associated with progressive renal impairment. Management in centres with multidisciplinary teams is essential.

Publicações recentes

Ver todas no PubMed

📚 EuropePMCmostrando 200

2026

Ovarian Hormones Moderate Systolic Hypertension in Female Eln Haploinsufficient Mice.

American journal of physiology. Renal physiology
2026

Papilledema and Pseudopapilledema in Alagille Syndrome: A Case Report.

Neuro-ophthalmology (Aeolus Press)
2025

[Clinical phenotype and genetic analysis of a child with CAKUTHED syndrome due to variant of PBX1 gene].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
2026

Transesophageal echocardiography (TEE)-guided management of post-myocardial infarction complications.

The international journal of cardiovascular imaging
2026

Clinical Presentation and Long-Term Outcomes of Prune Belly Syndrome in a Tertiary Hospital.

Archivos espanoles de urologia
2026

Beyond Blood Pressure: Salt Sensitivity as a Cardiorenal Phenotype-A Narrative Review.

Life (Basel, Switzerland)
2026

The evolving concept from Cardiovascular-kidney-metabolic syndrome to metabolic associated liver-cardiovascular-kidney syndrome: insights from endocrinology.

Reviews in endocrine &amp; metabolic disorders
2026

Timely surgical intervention and risk stratification in patients with Ebstein anomaly: a 20-year retrospective cohort study.

International journal of surgery (London, England)
2025

The right heart perspective in chronic cardiorenal syndrome: the key role of right heart function and tricuspid regurgitation innovation.

Frontiers in cardiovascular medicine
2026

Metabolic Dysfunction at the Core: Revisiting the Overlap of Cardiovascular, Renal, Hepatic, and Endocrine Disorders.

Life (Basel, Switzerland)
2025

A Complex Diagnostic Challenge of Dual Antibiotic-Induced Drug Reaction With Eosinophilia and Systemic Symptoms (DRESS) Syndrome With Multiorgan Involvement.

Cureus
2025

Cardiac metastasis of urothelial carcinoma mimicking ST-elevation myocardial infarction.

Klinicka onkologie : casopis Ceske a Slovenske onkologicke spolecnosti
2026

Mayer-Rokitansky-Kuster-Hauser Syndrome: From Radiological Diagnosis to Further Challenges-Review and Update.

Diagnostics (Basel, Switzerland)
2025

Expanding the Phenotypic Spectrum of FOXC1-Related Axenfeld-Rieger Syndrome Type 3: A Case Report.

Cureus
2025

Case Report: Maternal near-miss-recovery from refractory septic shock with multiple organ dysfunction secondary to acute pyelonephritis in pregnancy.

Frontiers in medicine
2025

Streptococcal toxic shock syndrome with acute respiratory distress syndrome following adenotonsillectomy in a child: a case report.

Frontiers in pediatrics
2025

A TMEM260 Biallelic Deletion Underlies Truncus Arteriosus.

Molecular syndromology
2025

Gastrointestinal malrotation and chronic intestinal pseudo-obstruction in two pediatric patients with Baraitser-Winter cerebrofrontofacial syndrome.

JPGN reports
2026

Detection of the Heterozygous Recurrent MAX p.(Arg60Gln) Variant in Two Females Confirms and Expands the Phenotypic Spectrum of Polydactyly-Macrocephaly Syndrome.

Clinical genetics
2025

Changes in hepatic and renal Doppler ultrasonography: Current standard therapy in dogs with congestive heart failure.

Open veterinary journal
2025

Dengue and the Heart: A Retrospective Study of Electrocardiographic Changes.

Cureus
2025

Crystal clear - Part II: the role of uric acid in cardiorenal disease.

European journal of internal medicine
2025

13q Deletion Syndrome Presenting with Lymphopenia Detected Through Newborn Screening for Primary Immunodeficiencies.

International journal of molecular sciences
2026

Mono-allelic pathogenic variants in JAG1 cause autosomal dominant tubulo-interstitial kidney disease (ADTKD-JAG1).

Kidney international
2025

Systemic Interactions in HFpEF: A Multiorgan Perspective on Pathways and Therapeutic Targets.

Journal of cardiovascular translational research
2025

Unraveling Non-coding RNAs and dysregulation of TGF-β signalling in cardiorenal syndrome, a focused review for molecular and clinical applications.

Molecular biology reports
2025

Transthyretin-Related Cardiac Amyloidosis: A Case of Delayed Diagnosis in the Comorbid Patient and Literature Review.

Cureus
2025

Metabolic Cardiovascular Renal Disease (Met-CVRD): A New Nomenclature.

Diabetes/metabolism research and reviews
2025

When the Heart, Kidneys, and Body Waste Away: A Review of Cachexia in Cardiorenal Syndrome.

Current heart failure reports
2025

Epithelial sodium channels: contributions to the regulation of vascular function and blood pressure.

American journal of physiology. Heart and circulatory physiology
2025

Population prevalence and correlates of prolonged and shortened QTc intervals in a nationwide survey of adults in China: a report from Chinese arrhythmia epidemiology cross-sectional study.

Frontiers in cardiovascular medicine
2025

Cardiomyopathy in the Shadow of Fibrillary Glomerulonephritis: An Unusual Indirect Association.

Cureus
2025

Association between cardiovascular-kidney-metabolic health metrics and long-term cardiovascular risk: Findings from the Chinese Multi-provincial Cohort Study.

Chinese medical journal
2026

Exercise in Patients With Bicuspid Aortic Valve and Aortic Dilation.

The Annals of thoracic surgery
2025

Cardiac Involvement in Eosinophilic Granulomatosis with Polyangiitis.

Current cardiology reports
2025

[Genetic analysis for a pedigree with Structural heart defects and renal anomalies syndrome caused by variants of TMEM260 gene].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
2025

'VACTERL-H in newborn: A rare case report'.

Journal of neonatal-perinatal medicine
2025

Phenotypic Spectrum of KATNIP-Associated Joubert Syndrome: Possible Association with Esophageal Atresia and Review of the Literature.

Genes
2025

A Novel Frameshift Variant and a Partial EHMT1 Microdeletion in Kleefstra Syndrome 1 Patients Resulting in Variable Phenotypic Severity and Literature Review.

Genes
2025

A new association between Kleefstra syndrome and Panayiotopoulos epilepsy.

Italian journal of pediatrics
2025

Stress-Induced Cardiomyopathy Following Kidney Transplant.

JACC. Case reports
2025

Long term follow-up of multiorgan disease in Kleefstra syndrome 2 in an adult - case report.

BMC neurology
2025

Volume Optimization Incorporating Negative Pressure Diuresis in Heart Failure (VOID-HF).

ASAIO journal (American Society for Artificial Internal Organs : 1992)
2025

Cardiac Channelopathies: Clinical Diagnosis and Promising Therapeutics.

Journal of the American Heart Association
2025

[Trajectories and prevention of cardiovascular-kidney-metabolic syndrome risks in children and adolescents].

Zhonghua yi xue za zhi
2025

A 19-year-old male with truncus arteriosus type I: a rare case report from Syria.

Annals of medicine and surgery (2012)
2025

A homozygous human WNT11 variant is associated with laterality, heart and renal defects.

Disease models &amp; mechanisms
2025

[Role of ultrasound in critically ill patients with heart failure].

Revista de la Facultad de Ciencias Medicas (Cordoba, Argentina)
2025

Ventilation-induced acute kidney injury in acute respiratory failure: Do PEEP levels matter?

Critical care (London, England)
2025

SGLT2 inhibitors in CKD: are they really effective in all patients?

Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association
2025

[Clinical features of CHARGE syndrome in children].

[Zhonghua yan ke za zhi] Chinese journal of ophthalmology
2025

Biochemical differences based on sex and clusters of biomarkers in patients with COVID-19: analysis from the CARDIO COVID 19-20 registry.

BMC cardiovascular disorders
2025

Sonographic diagnosis of fetal eye anomalies and their association with syndromal diseases: A retrospective multicenter analysis of 264 cases.

Acta obstetricia et gynecologica Scandinavica
2025

Gut microbiota-derived metabolites: Potential targets for cardiorenal syndrome.

Pharmacological research
2025

Kidney Function and Size in Children With Down Syndrome: A Cross-Sectional Study.

Nephrology (Carlton, Vic.)
2025

In-hospital outcomes of patients with antiphospholipid syndrome undergoing transcatheter and surgical aortic valve replacement: A population-based analysis of national inpatient sample from 2015-2021.

Lupus
2025

Kabuki and CHARGE syndromes: overlapping symptoms and diagnostic challenges.

Einstein (Sao Paulo, Brazil)
2025

Protein-bound uremic toxins as therapeutic targets for cardiovascular, kidney, and metabolic disorders.

Frontiers in endocrinology
2025

Aberrant right renal perfusion from right internal mammary artery.

Journal of vascular surgery cases and innovative techniques
2025

A case report of a rare cardiac anomaly associated with Ellis-van Creveld syndrome: common atrium, partial atrioventricular septal defect, and hypoplastic left ventricle.

European heart journal. Case reports
2024

A Case of a Newborn Presenting With a VACTERL-Like Association.

Cureus
2025

Extracorporeal cardiopulmonary resuscitation outcomes in pre-Glenn single ventricle infants: Analysis of a ten-year dataset.

Resuscitation
2024

Cardio-Renal Syndrome: Latest Developments in Device-Based Therapy.

Journal of clinical medicine
2025

Lethal Phenotype and Expansion of the Clinical Spectrum of Biallelic Loss of Function Variant in SENP7 Gene Unveiled by Whole Exome Sequencing.

Clinical genetics
2025

A minimally invasive swine model of chronic kidney disease-associated heart failure.

American journal of physiology. Heart and circulatory physiology
2024

Mitral Valve Prolapse in a Patient With Polycystic Kidney Disease.

Cureus
2024

Correlation analysis of AVPR1a and AVPR2 with abnormal water and sodium and potassium metabolism in rats.

Open life sciences
2025

Anatomic and non-anatomic substrates in infants with two ventricles undergoing aortic arch repair.

Cardiology in the young
2025

Butyrate-Mediated Modulation of Paraoxonase-1 Alleviates Cardiorenometabolic Abnormalities in a Rat Model of Polycystic Ovarian Syndrome.

Cardiovascular drugs and therapy
2024

Characterization of a novel ovine model of hypertensive heart failure with preserved ejection fraction.

American journal of physiology. Heart and circulatory physiology
2024

Outcomes of pediatric heart transplantation in children with selected genetic syndromes.

JTCVS open
2024

Special considerations for the stabilization and resuscitation of patients with cardiac disease in the Neonatal Intensive Care Unit.

Seminars in perinatology
2024

Italian Guidelines for the diagnosis and treatment of Fetal Alcohol Spectrum Disorders: clinical hallmarks.

Rivista di psichiatria
2024

Cardiac rhabdomyoma: a rare feature of Birt-Hogg-Dubé syndrome.

Journal of medical genetics
2024

A Systematic Review of Metabolic Syndrome: Key Correlated Pathologies and Non-Invasive Diagnostic Approaches.

Journal of clinical medicine
2024

Phenome-wide profiling identifies genotype-phenotype associations in Phelan-McDermid syndrome using family-sourced data from an international registry.

Molecular autism
2024

Mortality in Patients with 22q11.2 Rearrangements.

Genes
2024

HDR syndrome presented with nephrotic syndrome in a Chinese boy: A case report.

World journal of clinical cases
2025

SF3B2 Haploinsufficiency Associated With Hirschprung Disease and Complex Cardiac Defect Without Craniofacial Microsomia.

American journal of medical genetics. Part A
2024

External ear malformations and cardiac and renal anomalies: A systematic review and meta-analysis.

PloS one
2024

Autonomic Disturbances in Children with Nutcracker Syndrome: A Case Control Study.

Indian pediatrics
2024

Genetic and Phenotypic Spectrum of KMT2D Variants in Taiwanese Case Series of Kabuki Syndrome.

Diagnostics (Basel, Switzerland)
2024

Global Community Health Screening and Educational Intervention for Early Detection of Cardiometabolic Renal Disease.

Annals of global health
2024

Lymphedema in Turner syndrome: correlations with phenotype and karyotype.

Journal of pediatric endocrinology &amp; metabolism : JPEM
2025

Aortic valve thrombosis in nephrotic syndrome: a case report.

Journal of nephrology
2024

Case report: Challenging kidney transplantation in an adolescent patient with tetralogy of Fallot.

Frontiers in medicine
2023

Assessment of extra-coronary peripheral arteriopathy in spontaneous coronary dissection: state of the art in non-invasive imaging techniques and future perspectives.

European heart journal. Imaging methods and practice
2024

Comparison of Blalock-Taussig-Thomas Shunts With Patent Ductus Arteriosus Ligated Versus Left Open.

World journal for pediatric &amp; congenital heart surgery
2024

Prevalence, diagnostic features, and medical outcomes of females with Turner syndrome with a trisomy X cell line (45,X/47,XXX): Results from the InsighTS Registry.

American journal of medical genetics. Part A
2024

Optimal Timing of Delivery for Pregnant Individuals With Mild Chronic Hypertension.

Obstetrics and gynecology
2024

PTPN11 and FLNA variants in a boy with ambiguous genitalia, short stature, and non-specific dysmorphic features.

Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology
2024

Cardiovascular risk reduction in type 2 diabetes: What the non-specialist needs to know about current guidelines.

Diabetes, obesity &amp; metabolism
2024

Persistent Urogenital Sinus Leading to Hydrometrocolpos in a Female Child With Features of McKusick-Kaufman Syndrome.

Cureus
2023

Phenotypic and cytogenetic variability of patau syndrome in Morocco.

African health sciences
2024

A Case of Noonan Syndrome and Kyrle's Disease: Coincidence or Causality?

Acta dermatovenerologica Croatica : ADC
2024

Second harvest of Congenital Heart Surgery Database in Türkiye: Current outcomes.

Turk gogus kalp damar cerrahisi dergisi
2024

Pathogenic mechanisms of cardiovascular damage in COVID-19.

Molecular medicine (Cambridge, Mass.)
2024

Alström Syndrome: A Challenging Case Study of a Female Saudi Patient With Type 2 Diabetes Mellitus and Complete Vision Loss.

Cureus
2024

Parachute Mitral Valve and Mid-Aortic Syndrome - Unusual Associations of Alagille Syndrome.

European journal of case reports in internal medicine
2024

Defining the cardiovascular phenotype of adults with Alström syndrome.

International journal of cardiology
2024

[Alagille syndrome associated to JAG1 gene deletion. An unusual etiology].

Andes pediatrica : revista Chilena de pediatria
2024

A novel MED12 pathogenic variant in a female fetus with facial cleft and cardiac defects identified in the first trimester.

Prenatal diagnosis
2024

Cardiac Devices and Kidney Disease.

Seminars in nephrology
2024

ST-segment elevation myocardial infarction in Nail-Patella syndrome with anomalous coronary anatomy and aneurysms: a case report.

European heart journal. Case reports
2024

Epidemiology and Management of Patients With Kidney Disease and Heart Failure With Preserved Ejection Fraction.

Seminars in nephrology
2024

Vacterl syndrome: Medical and stomatological considerations for comprehensive patient management.

Special care in dentistry : official publication of the American Association of Hospital Dentists, the Academy of Dentistry for the Handicapped, and the American Society for Geriatric Dentistry
2024

PRKD1-related telangiectasia-ectodermal dysplasia-brachydactyly-cardiac anomaly syndrome: Case report and review of the literature.

European journal of medical genetics
2024

Hepato-Cardio-Renal Syndrome.

Advances in kidney disease and health
2024

Characteristics, predictors and outcomes of new-onset QT prolongation in sepsis: a multicenter retrospective study.

Critical care (London, England)
2024

Hearing Loss in Baraitser-Winter Syndrome: Case Reports and Review of the Literature.

Journal of clinical medicine
2024

A novel heterozygous variant of the SALL1 gene with atypical Townes-Brocks syndrome phenotypes in Chinese family.

Nephrology (Carlton, Vic.)
2024

The Outcomes of Cardiac Surgery in Children With DiGeorge Syndrome in a Single Center Experience: A Retrospective Cohort Study.

Cureus
2024

Population-based surveillance of congenital anomalies over 40 years (1981-2020): Results from the Paris Registry of Congenital Malformations (remaPAR).

Journal of gynecology obstetrics and human reproduction
2024

Primary Cilium in Neural Crest Cells Crucial for Anterior Segment Development and Corneal Avascularity.

Investigative ophthalmology &amp; visual science
2024

Evaluating the relationship between the proportion of X-chromosome deletions and clinical manifestations in children with turner syndrome.

Frontiers in endocrinology
2023

A Case of Noonan Syndrome and Kyrle Disease: Casualty or Causality?

Acta dermatovenerologica Croatica : ADC
2024

[A Uncommon Case: Kasabach-Merritt syndrome with VACTERL Association].

Zeitschrift fur Geburtshilfe und Neonatologie
2024

The c.1617del variant of TMEM260 is identified as the most frequent single gene determinant for Japanese patients with a specific type of congenital heart disease.

Journal of human genetics
2024

Genetic etiology of truncus arteriosus excluding 22q11.2 deletion syndrome and identification of c.1617del, a prevalent variant in TMEM260, in the Japanese population.

Journal of human genetics
2024

[Manifestations of Turner syndrome: don't miss the diagnosis].

Nederlands tijdschrift voor geneeskunde
2024

Venous Doppler flow patterns, venous congestion, heart disease and renal dysfunction: A complex liaison.

World journal of cardiology
2024

Hepatocardiorenal syndrome in liver cirrhosis: Recognition of a new entity?

World journal of gastroenterology
2024

Diabetes mellitus in Kabuki syndrome 1 on a background of post-transplant diabetes mellitus.

Endocrinology, diabetes &amp; metabolism case reports
2023

Klippel-Feil Syndrome Associated with Renal and Cardiac Anomalies in an Infant: A Case Report.

JNMA; journal of the Nepal Medical Association
2023

Chronic Kidney Disease Associated with Ischemic Heart Disease: To What Extent Do Biomarkers Help?

Life (Basel, Switzerland)
2023

Endothelial Dysfunction and Heart Failure with Preserved Ejection Fraction-An Updated Review of the Literature.

Life (Basel, Switzerland)
2023

Rare disease gene association discovery from burden analysis of the 100,000 Genomes Project data.

medRxiv : the preprint server for health sciences
2023

Bardet-Biedl Syndrome with Choledochal Cyst: Rare Association with a Novel Variant.

Journal of Indian Association of Pediatric Surgeons
2023

A Korean male with Kleefstra syndrome presented with micropenis.

Annals of pediatric endocrinology &amp; metabolism
2024

Intrauterine ultrasound phenotyping, molecular characteristics, and postnatal follow-up of fetuses with the 15q11.2 BP1-BP2 microdeletion syndrome: a single-center, retrospective clinical study.

BMC pregnancy and childbirth
2023

The impact of COVID-19 on pulmonary, neurological, and cardiac outcomes: evidence from a Mendelian randomization study.

Frontiers in public health
2024

A novel TTC26 variant in a patient with hexadactyly, pituitary stalk interruption, hepatopathy, nephropathy, and bilateral lip-palate cleft: A case report and expansion of the phenotype.

American journal of medical genetics. Part A
2024

A novel NONO nonsense variant in a fetus with renal abnormalities.

Prenatal diagnosis
2024

Cardiovascular-Kidney-Metabolic (CKM) syndrome: A state-of-the-art review.

Current problems in cardiology
2024

Recent advances in mechanistic studies of heart failure with preserved ejection fraction and its comorbidities-Role of microRNAs.

European journal of clinical investigation
2023

Crusted scabies in a rabbit model: a severe skin disease or more?

Parasites &amp; vectors
2023

[Prenatal diagnosis of a case with Schuurs-Hoeijmakers syndrome].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
2023

Campylobacter Colitis as a Trigger for Atypical Hemolytic Uremic Syndrome: About One Case.

Case reports in nephrology and dialysis
2023

Navigating a Complex Presentation: Management of Hypernatremic Dehydration, Acute Kidney Injury, Hyperkalemia, and Metabolic Acidosis in a Patient With Down Syndrome: A Case Report.

Cureus
2023

Perinatal Diagnosis and Management of a Case with Interrupted Aortic Arch, Pulmonary Valve Dysplasia and 22q11.2 Deletion: A Case Report.

Medicina (Kaunas, Lithuania)
2023

Dimethyl Fumarate Ameliorated Cardiorenal Anemia Syndrome and Improved Overall Survival in Dahl/Salt-Sensitive Rats.

The Journal of pharmacology and experimental therapeutics
2024

Monoallelic Loss-of-Function IFT140 Pathogenic Variants Cause Autosomal Dominant Polycystic Kidney Disease: A Confirmatory Study With Suspicion of an Additional Cardiac Phenotype.

American journal of kidney diseases : the official journal of the National Kidney Foundation
2023

Heart's Dangerous Symphony: Torsade De Pointes Unleashed by Gitelman Syndrome-Induced Hypomagnesemia.

Cureus
2023

Is there a role in acute kidney injury for FGF23 and Klotho?

Clinical kidney journal
2023

Pleural-based giant solitary fibrous tumour with associated hypoglycaemia: unusual presentation with pulmonary hypertension in a patient with Doege-Potter syndrome.

Clinical medicine (London, England)
2024

Prenatal and infantile diagnosis of craniosynostosis in individuals with RASopathies.

American journal of medical genetics. Part A
2023

Prenatal diagnosis of 15q11.2 microdeletion fetuses in Eastern China: 21 case series and literature review.

The journal of maternal-fetal &amp; neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians
2023

Hajdu-Cheney syndrome with a novel variant in NOTCH2 gene: A case report.

Bone reports
2023

Nonfamilial VACTERL-H Syndrome in a Dizygotic Twin: Prenatal Ultrasound and Postnatal 3D CT Findings.

Medicina (Kaunas, Lithuania)
2024

SALL4 Phenotype in Four Generations of One Family: An Interplay of the Upper Limb, Kidneys, and the Pituitary.

Hormone research in paediatrics
2023

Kidney Injury in Critically Ill Patients with COVID-19 - From Pathophysiological Mechanisms to a Personalized Therapeutic Model.

Journal of critical care medicine (Universitatea de Medicina si Farmacie din Targu-Mures)
2023

Abnormalities of pubertal development and gonadal function in Noonan syndrome.

Frontiers in endocrinology
2024

Embryonic statistical analyses reveal 2 growth phenotypes in mouse models of Down syndrome.

American journal of obstetrics and gynecology
2023

Case Report: Non-ossifying fibromas with pathologic fractures in a patient with NONO-associated X-linked syndromic intellectual developmental disorder.

Frontiers in genetics
2023

Heterozygous rare variants in NR2F2 cause a recognizable multiple congenital anomaly syndrome with developmental delays.

European journal of human genetics : EJHG
2023

Inflammation and gut dysbiosis as drivers of CKD-MBD.

Nature reviews. Nephrology
2023

The Burden of Congenital Heart Disease and Urogenital Lesions in a National Cohort of Hirschsprung Patients.

Journal of pediatric surgery
2023

Organ Abnormalities Caused by Turner Syndrome.

Cells
2024

Kidney and urological involvement in Down syndrome: frequent, underestimated, but associated with impaired quality of life and risk of kidney failure.

Pediatric nephrology (Berlin, Germany)
2023

Novel mutation c.2090_2091del in neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities in an 18.5-mo-old boy: A case report.

World journal of clinical cases
2023

PUF60-related developmental disorder: A case series and phenotypic analysis of 10 additional patients with monoallelic PUF60 variants.

American journal of medical genetics. Part A
2023

Craniofacial Microsomia, Associated Congenital Anomalies, and Risk Factors in 63 Cases from the Alberta Congenital Anomalies Surveillance System.

The Journal of pediatrics
2023

Clinical Presentations and Diagnostic Imaging of VACTERL Association.

Fetal and pediatric pathology
2023

The SHDRA syndrome-associated gene TMEM260 encodes a protein-specific O-mannosyltransferase.

Proceedings of the National Academy of Sciences of the United States of America
2023

PHACES-like syndrome with TMEM260 compound heterozygous variants.

American journal of medical genetics. Part A
2023

Fetal Doppler in monochorionic pregnancies complicated by twin-to-twin transfusion syndrome and selective in utero growth restriction.

European journal of obstetrics, gynecology, and reproductive biology
2023

A case of malignant hypertension as a presentation of atypical hemolytic uremic syndrome.

Clinical nephrology. Case studies
2023

Hypertension in the Neonatal Intensive Care Unit (NICU): A Case of Mid-Aortic Syndrome.

Cureus
2023

ABL1-related congenital heart defects and skeletal malformations syndrome in a patient from Sub-Saharan Africa: A case report highlighting novel cardiac features.

American journal of medical genetics. Part A
2023

Cardiac Structure and Function and Subsequent Kidney Disease Progression in Adults With CKD: The Chronic Renal Insufficiency Cohort (CRIC) Study.

American journal of kidney diseases : the official journal of the National Kidney Foundation
2023

The Role and Advantages of Cardiac Magnetic Resonance in the Diagnosis of Myocardial Ischemia.

Journal of thoracic imaging
2023

Renal Insufficiency Increases the Combined Risk of Left Ventricular Hypertrophy and Dysfunction in Patients at High Risk of Cardiovascular Diseases.

Journal of clinical medicine
2023

Chromosomal Microarray Analysis Identifies a Novel SALL1 Deletion, Supporting the Association of Haploinsufficiency with a Mild Phenotype of Townes-Brocks Syndrome.

Genes
2023

A rare middle aortic syndrome with celiac trunk, superior mesenteric and bilateral renal artery involvement.

Heliyon
2022

Six-month multidisciplinary follow-up in multisystem inflammatory syndrome in children: An Italian single-center experience.

Frontiers in pediatrics
2023

Prenatal diagnosis of Simpson-Golabi-Behmel syndrome type 1 with an 814 kb Xq26.2 deletion with the initial presentation of a thick nuchal fold.

Taiwanese journal of obstetrics &amp; gynecology
2023

Fetal Tethered Spinal Cord: Diagnostic Features and Its Association with Congenital Anomalies.

Fetal and pediatric pathology
2023

Spectrum of fetal limb anomalies.

Journal of clinical ultrasound : JCU
2023

The Importance of Screening for Additional Anomalies in Patients with Anorectal Malformations: A Retrospective Cohort Study.

Journal of pediatric surgery
2022

Prenatal diagnosis of distal 13q deletion syndrome in a fetus with esophageal atresia: a case report and review of the literature.

Journal of medical case reports
2023

Descriptors of Failed Extubation in Norwood Patients Using Physiologic Data Streaming.

Pediatric cardiology
2022

A Japanese boy with Bardet-Biedl syndrome caused by a novel homozygous variant in the ARL6 gene who was initially diagnosed with retinitis punctata albescens: A case report.

Medicine
2023

Correlation of rheumatoid and cardiac biomarkers with cardiac anatomy and function in rheumatoid arthritis patients without clinically overt cardiovascular diseases: A cross-sectional study.

International journal of cardiology. Heart &amp; vasculature
2023

Asymmetric crying facies in an elderly, when a facial asymmetry is not a facial paralysis but a marker of possible congenital malformations: case report and review of the literature.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
2022

Prenatal Phenotype of Kabuki Syndrome: Seven Case Series.

Fetal diagnosis and therapy
2023

Cardiac effects of renal ischemia.

American journal of physiology. Renal physiology
2022

Left ventricular dysfunction with preserved ejection fraction: the most common left ventricular disorder in chronic kidney disease patients.

Clinical kidney journal
2023

Renal Involvement in H Syndrome, A Rare Cause of Diabetes Mellitus: Case Report.

Endocrine, metabolic &amp; immune disorders drug targets
2022

Case Report: Takotsubo syndrome in a postoperative patient without cardiological disease.

F1000Research
2022

An infant with congenital heart defects and proteinuria: a case report.

BMC pediatrics
2023

Obstetrical and neonatal outcomes of cardio-facio-cutaneous syndrome: Prenatal consequences of Ras/MAPK dysregulation.

American journal of medical genetics. Part A
2023

Retrospective evaluation of clinical and molecular data of 148 cases of esophageal atresia.

American journal of medical genetics. Part A
2022

Cardiorenal Interactions: A Review.

CJC open
2023

Canagliflozin reduces proteinuria by targeting hyperinsulinaemia in diabetes patients with heart failure: A post hoc analysis of the CANDLE trial.

Diabetes, obesity &amp; metabolism
2022

Management and outcomes of acute post-streptococcal glomerulonephritis in children.

World journal of nephrology
2022

How useful is electrocardiography in children with cochlear implantation?

International journal of pediatric otorhinolaryngology
2023

Society for Maternal-Fetal Medicine Consult Series #64: Systemic lupus erythematosus in pregnancy.

American journal of obstetrics and gynecology
2023

Detection rates of a national fetal anomaly screening programme: A national cohort study.

BJOG : an international journal of obstetrics and gynaecology
2022

Prenatal diagnosis of Emanuel syndrome - case series and review of the literature.

Journal of obstetrics and gynaecology : the journal of the Institute of Obstetrics and Gynaecology
2022

Fetal adverse effects following NSAID or metamizole exposure in the 2nd and 3rd trimester: an evaluation of the German Embryotox cohort.

BMC pregnancy and childbirth

Associações

Organizações que acompanham esta doença — pra ter apoio e orientação

Ainda não temos associações cadastradas para Síndrome de holoprosencefalia-anomalias radio-cardio-renais.

É de uma associação que acompanha esta doença? Fale com a gente →

Comunidades

Grupos ativos de quem convive com esta doença aqui no Raras

Ainda não existe comunidade no Raras para Síndrome de holoprosencefalia-anomalias radio-cardio-renais

Pacientes, familiares e cuidadores se organizam em comunidades pra compartilhar experiências, fazer perguntas e se apoiar. Você pode ser o primeiro.

Tire suas dúvidas

Perguntas, dicas e experiências compartilhadas aqui na página

Participe da discussão

Faça login para postar dúvidas, compartilhar experiências e interagir com especialistas.

Fazer login

Doenças relacionadas

Doenças com sintomas parecidos — ajudam quem ainda está buscando diagnóstico

Referências e fontes

Bases de dados externas citadas neste artigo

Publicações científicas

Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.

  1. Detection of the Heterozygous Recurrent MAX p.(Arg60Gln) Variant in Two Females Confirms and Expands the Phenotypic Spectrum of Polydactyly-Macrocephaly Syndrome.
    Clinical genetics· 2026· PMID 41203296mais citado
  2. Ovarian Hormones Moderate Systolic Hypertension in Female Eln Haploinsufficient Mice.
    American journal of physiology. Renal physiology· 2026· PMID 41869856mais citado
  3. Papilledema and Pseudopapilledema in Alagille Syndrome: A Case Report.
    Neuro-ophthalmology (Aeolus Press)· 2026· PMID 41847280mais citado
  4. Transesophageal echocardiography (TEE)-guided management of post-myocardial infarction complications.
    The international journal of cardiovascular imaging· 2026· PMID 41796270mais citado
  5. Clinical Presentation and Long-Term Outcomes of Prune Belly Syndrome in a Tertiary Hospital.
    Archivos espanoles de urologia· 2026· PMID 41775349mais citado
  6. Sonographic diagnosis of fetal eye anomalies and their association with syndromal diseases: A retrospective multicenter analysis of 264 cases.
    Acta Obstet Gynecol Scand· 2025· PMID 40040326recente
  7. PRKD1-related telangiectasia-ectodermal dysplasia-brachydactyly-cardiac anomaly syndrome: Case report and review of the literature.
    Eur J Med Genet· 2024· PMID 38677542recente
  8. A novel TTC26 variant in a patient with hexadactyly, pituitary stalk interruption, hepatopathy, nephropathy, and bilateral lip-palate cleft: A case report and expansion of the phenotype.
    Am J Med Genet A· 2024· PMID 38135897recente
  9. [Prenatal diagnosis of a case with Schuurs-Hoeijmakers syndrome].
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi· 2023· PMID 37906144recente
  10. Pleural-based giant solitary fibrous tumour with associated hypoglycaemia: unusual presentation with pulmonary hypertension in a patient with Doege-Potter syndrome.
    Clin Med (Lond)· 2023· PMID 37775170recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:3186(Orphanet)
  2. OMIM OMIM:184705(OMIM)
  3. MONDO:0008488(MONDO)
  4. GARD:2727(GARD (NIH))
  5. Busca completa no PubMed(PubMed)
  6. Q43389521(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 de holoprosencefalia-anomalias radio-cardio-renais
Compêndio · Raras BR

Síndrome de holoprosencefalia-anomalias radio-cardio-renais

ORPHA:3186 · MONDO:0008488
Prevalência
<1 / 1 000 000
Casos
4 casos conhecidos
CID-10
Q87.8 · Outras síndromes com malformações congênitas especificadas, não classificadas em outra parte
Início
Antenatal, Neonatal
Prevalência
0.0 (Worldwide)
MedGen
UMLS
C1866649
Wikidata
DiscussaoAtiva

Nenhuma novidade ainda. O agente esta monitorando.

0membros
0novidades