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.**
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
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 13 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 37 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Nenhum gene associado encontrado
Os dados genéticos desta condição ainda estão sendo catalogados.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Síndrome 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
Hospital Infantil Albert Sabin
R. Tertuliano Sales, 544 - Vila União, Fortaleza - CE, 60410-794 · CNES 2407876
Serviço de Referência
Hospital de Apoio de Brasília (HAB)
AENW 3 Lote A Setor Noroeste - Plano Piloto, Brasília - DF, 70684-831 · CNES 0010456
Serviço de Referência
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
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
Hospital Universitário da UFJF
R. Catulo Breviglieri, Bairro - s/n - Santa Catarina, Juiz de Fora - MG, 36036-110 · CNES 2297442
Atenção Especializada
Hospital das Clínicas da UFMG
Av. Prof. Alfredo Balena, 110 - Santa Efigênia, Belo Horizonte - MG, 30130-100 · CNES 2280167
Serviço de Referência
Hospital Universitário Julio Müller (HUJM)
R. Luis Philippe Pereira Leite, s/n - Alvorada, Cuiabá - MT, 78048-902 · CNES 2726092
Atenção Especializada
Hospital Universitário João de Barros Barreto
R. dos Mundurucus, 4487 - Guamá, Belém - PA, 66073-000 · CNES 2337878
Serviço de Referência
Hospital Universitário Lauro Wanderley (HULW)
R. Tabeliao Estanislau Eloy, 585 - Castelo Branco, João Pessoa - PB, 58050-585 · CNES 0002470
Atenção Especializada
Instituto de Medicina Integral Prof. Fernando Figueira (IMIP)
R. dos Coelhos, 300 - Boa Vista, Recife - PE, 50070-902 · CNES 0000647
Serviço de Referência
Hospital Pequeno Príncipe
R. Des. Motta, 1070 - Água Verde, Curitiba - PR, 80250-060 · CNES 3143805
Serviço de Referência
Hospital Universitário Regional de Maringá (HUM)
Av. Mandacaru, 1590 - Parque das Laranjeiras, Maringá - PR, 87083-240 · CNES 2216108
Atenção Especializada
Hospital de Clínicas da UFPR
R. Gen. Carneiro, 181 - Alto da Glória, Curitiba - PR, 80060-900 · CNES 2364980
Serviço de Referência
Hospital Universitário Pedro Ernesto (HUPE-UERJ)
Blvd. 28 de Setembro, 77 - Vila Isabel, Rio de Janeiro - RJ, 20551-030 · CNES 2280221
Serviço de Referência
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
Hospital São Lucas da PUCRS
Av. Ipiranga, 6690 - Jardim Botânico, Porto Alegre - RS, 90610-000 · CNES 2232928
Serviço de Referência
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
Hospital Universitário da UFSC (HU-UFSC)
R. Profa. Maria Flora Pausewang - Trindade, Florianópolis - SC, 88036-800 · CNES 2560356
Serviço de Referência
Hospital das Clínicas da FMUSP
R. Dr. Ovídio Pires de Campos, 225 - Cerqueira César, São Paulo - SP, 05403-010 · CNES 2077485
Serviço de Referência
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
Hospital de Clínicas da UNICAMP
R. Vital Brasil, 251 - Cidade Universitária, Campinas - SP, 13083-888 · CNES 2748223
Serviço de Referência
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
UNIFESP / Hospital São Paulo
R. Napoleão de Barros, 715 - Vila Clementino, São Paulo - SP, 04024-002 · CNES 2688689
Serviço de Referência
Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.
Pesquisa ativa
Ensaios clínicos abertos e novidades científicas recentes
Pesquisa e ensaios clínicos
Nenhum ensaio clínico registrado para esta condição.
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World journal of gastroenterologyDiabetes mellitus in Kabuki syndrome 1 on a background of post-transplant diabetes mellitus.
Endocrinology, diabetes & metabolism case reportsKlippel-Feil Syndrome Associated with Renal and Cardiac Anomalies in an Infant: A Case Report.
JNMA; journal of the Nepal Medical AssociationChronic Kidney Disease Associated with Ischemic Heart Disease: To What Extent Do Biomarkers Help?
Life (Basel, Switzerland)Endothelial Dysfunction and Heart Failure with Preserved Ejection Fraction-An Updated Review of the Literature.
Life (Basel, Switzerland)Rare disease gene association discovery from burden analysis of the 100,000 Genomes Project data.
medRxiv : the preprint server for health sciencesBardet-Biedl Syndrome with Choledochal Cyst: Rare Association with a Novel Variant.
Journal of Indian Association of Pediatric SurgeonsA Korean male with Kleefstra syndrome presented with micropenis.
Annals of pediatric endocrinology & metabolismIntrauterine 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 childbirthThe impact of COVID-19 on pulmonary, neurological, and cardiac outcomes: evidence from a Mendelian randomization study.
Frontiers in public healthA 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 AA novel NONO nonsense variant in a fetus with renal abnormalities.
Prenatal diagnosisCardiovascular-Kidney-Metabolic (CKM) syndrome: A state-of-the-art review.
Current problems in cardiologyRecent advances in mechanistic studies of heart failure with preserved ejection fraction and its comorbidities-Role of microRNAs.
European journal of clinical investigationCrusted scabies in a rabbit model: a severe skin disease or more?
Parasites & vectors[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 geneticsCampylobacter Colitis as a Trigger for Atypical Hemolytic Uremic Syndrome: About One Case.
Case reports in nephrology and dialysisNavigating a Complex Presentation: Management of Hypernatremic Dehydration, Acute Kidney Injury, Hyperkalemia, and Metabolic Acidosis in a Patient With Down Syndrome: A Case Report.
CureusPerinatal Diagnosis and Management of a Case with Interrupted Aortic Arch, Pulmonary Valve Dysplasia and 22q11.2 Deletion: A Case Report.
Medicina (Kaunas, Lithuania)Dimethyl Fumarate Ameliorated Cardiorenal Anemia Syndrome and Improved Overall Survival in Dahl/Salt-Sensitive Rats.
The Journal of pharmacology and experimental therapeuticsMonoallelic 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 FoundationHeart's Dangerous Symphony: Torsade De Pointes Unleashed by Gitelman Syndrome-Induced Hypomagnesemia.
CureusIs there a role in acute kidney injury for FGF23 and Klotho?
Clinical kidney journalPleural-based giant solitary fibrous tumour with associated hypoglycaemia: unusual presentation with pulmonary hypertension in a patient with Doege-Potter syndrome.
Clinical medicine (London, England)Prenatal and infantile diagnosis of craniosynostosis in individuals with RASopathies.
American journal of medical genetics. Part APrenatal diagnosis of 15q11.2 microdeletion fetuses in Eastern China: 21 case series and literature review.
The journal of maternal-fetal & 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 ObstetriciansHajdu-Cheney syndrome with a novel variant in NOTCH2 gene: A case report.
Bone reportsNonfamilial VACTERL-H Syndrome in a Dizygotic Twin: Prenatal Ultrasound and Postnatal 3D CT Findings.
Medicina (Kaunas, Lithuania)SALL4 Phenotype in Four Generations of One Family: An Interplay of the Upper Limb, Kidneys, and the Pituitary.
Hormone research in paediatricsKidney 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)Abnormalities of pubertal development and gonadal function in Noonan syndrome.
Frontiers in endocrinologyEmbryonic statistical analyses reveal 2 growth phenotypes in mouse models of Down syndrome.
American journal of obstetrics and gynecologyCase Report: Non-ossifying fibromas with pathologic fractures in a patient with NONO-associated X-linked syndromic intellectual developmental disorder.
Frontiers in geneticsHeterozygous rare variants in NR2F2 cause a recognizable multiple congenital anomaly syndrome with developmental delays.
European journal of human genetics : EJHGInflammation and gut dysbiosis as drivers of CKD-MBD.
Nature reviews. NephrologyThe Burden of Congenital Heart Disease and Urogenital Lesions in a National Cohort of Hirschsprung Patients.
Journal of pediatric surgeryOrgan Abnormalities Caused by Turner Syndrome.
CellsKidney and urological involvement in Down syndrome: frequent, underestimated, but associated with impaired quality of life and risk of kidney failure.
Pediatric nephrology (Berlin, Germany)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 casesPUF60-related developmental disorder: A case series and phenotypic analysis of 10 additional patients with monoallelic PUF60 variants.
American journal of medical genetics. Part ACraniofacial Microsomia, Associated Congenital Anomalies, and Risk Factors in 63 Cases from the Alberta Congenital Anomalies Surveillance System.
The Journal of pediatricsClinical Presentations and Diagnostic Imaging of VACTERL Association.
Fetal and pediatric pathologyThe SHDRA syndrome-associated gene TMEM260 encodes a protein-specific O-mannosyltransferase.
Proceedings of the National Academy of Sciences of the United States of AmericaPHACES-like syndrome with TMEM260 compound heterozygous variants.
American journal of medical genetics. Part AFetal Doppler in monochorionic pregnancies complicated by twin-to-twin transfusion syndrome and selective in utero growth restriction.
European journal of obstetrics, gynecology, and reproductive biologyA case of malignant hypertension as a presentation of atypical hemolytic uremic syndrome.
Clinical nephrology. Case studiesHypertension in the Neonatal Intensive Care Unit (NICU): A Case of Mid-Aortic Syndrome.
CureusABL1-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 ACardiac 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 FoundationThe Role and Advantages of Cardiac Magnetic Resonance in the Diagnosis of Myocardial Ischemia.
Journal of thoracic imagingRenal Insufficiency Increases the Combined Risk of Left Ventricular Hypertrophy and Dysfunction in Patients at High Risk of Cardiovascular Diseases.
Journal of clinical medicineChromosomal Microarray Analysis Identifies a Novel SALL1 Deletion, Supporting the Association of Haploinsufficiency with a Mild Phenotype of Townes-Brocks Syndrome.
GenesA rare middle aortic syndrome with celiac trunk, superior mesenteric and bilateral renal artery involvement.
HeliyonSix-month multidisciplinary follow-up in multisystem inflammatory syndrome in children: An Italian single-center experience.
Frontiers in pediatricsPrenatal 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 & gynecologyFetal Tethered Spinal Cord: Diagnostic Features and Its Association with Congenital Anomalies.
Fetal and pediatric pathologySpectrum of fetal limb anomalies.
Journal of clinical ultrasound : JCUThe Importance of Screening for Additional Anomalies in Patients with Anorectal Malformations: A Retrospective Cohort Study.
Journal of pediatric surgeryPrenatal diagnosis of distal 13q deletion syndrome in a fetus with esophageal atresia: a case report and review of the literature.
Journal of medical case reportsDescriptors of Failed Extubation in Norwood Patients Using Physiologic Data Streaming.
Pediatric cardiologyA 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.
MedicineCorrelation 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 & vasculatureAsymmetric 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 NeurophysiologyPrenatal Phenotype of Kabuki Syndrome: Seven Case Series.
Fetal diagnosis and therapyCardiac effects of renal ischemia.
American journal of physiology. Renal physiologyLeft ventricular dysfunction with preserved ejection fraction: the most common left ventricular disorder in chronic kidney disease patients.
Clinical kidney journalRenal Involvement in H Syndrome, A Rare Cause of Diabetes Mellitus: Case Report.
Endocrine, metabolic & immune disorders drug targetsCase Report: Takotsubo syndrome in a postoperative patient without cardiological disease.
F1000ResearchAn infant with congenital heart defects and proteinuria: a case report.
BMC pediatricsObstetrical and neonatal outcomes of cardio-facio-cutaneous syndrome: Prenatal consequences of Ras/MAPK dysregulation.
American journal of medical genetics. Part ARetrospective evaluation of clinical and molecular data of 148 cases of esophageal atresia.
American journal of medical genetics. Part ACardiorenal Interactions: A Review.
CJC openCanagliflozin reduces proteinuria by targeting hyperinsulinaemia in diabetes patients with heart failure: A post hoc analysis of the CANDLE trial.
Diabetes, obesity & metabolismManagement and outcomes of acute post-streptococcal glomerulonephritis in children.
World journal of nephrologyHow useful is electrocardiography in children with cochlear implantation?
International journal of pediatric otorhinolaryngologySociety for Maternal-Fetal Medicine Consult Series #64: Systemic lupus erythematosus in pregnancy.
American journal of obstetrics and gynecologyDetection rates of a national fetal anomaly screening programme: A national cohort study.
BJOG : an international journal of obstetrics and gynaecologyPrenatal diagnosis of Emanuel syndrome - case series and review of the literature.
Journal of obstetrics and gynaecology : the journal of the Institute of Obstetrics and GynaecologyFetal adverse effects following NSAID or metamizole exposure in the 2nd and 3rd trimester: an evaluation of the German Embryotox cohort.
BMC pregnancy and childbirthAssociações
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Referências e fontes
Bases de dados externas citadas neste artigo
Publicações científicas
Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.
- Detection of the Heterozygous Recurrent MAX p.(Arg60Gln) Variant in Two Females Confirms and Expands the Phenotypic Spectrum of Polydactyly-Macrocephaly Syndrome.
- Ovarian Hormones Moderate Systolic Hypertension in Female Eln Haploinsufficient Mice.
- Papilledema and Pseudopapilledema in Alagille Syndrome: A Case Report.
- Transesophageal echocardiography (TEE)-guided management of post-myocardial infarction complications.
- Clinical Presentation and Long-Term Outcomes of Prune Belly Syndrome in a Tertiary Hospital.
- Sonographic diagnosis of fetal eye anomalies and their association with syndromal diseases: A retrospective multicenter analysis of 264 cases.
- PRKD1-related telangiectasia-ectodermal dysplasia-brachydactyly-cardiac anomaly syndrome: Case report and review of the literature.
- 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.
- [Prenatal diagnosis of a case with Schuurs-Hoeijmakers syndrome].
- Pleural-based giant solitary fibrous tumour with associated hypoglycaemia: unusual presentation with pulmonary hypertension in a patient with Doege-Potter syndrome.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:3186(Orphanet)
- OMIM OMIM:184705(OMIM)
- MONDO:0008488(MONDO)
- GARD:2727(GARD (NIH))
- Busca completa no PubMed(PubMed)
- 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
