O síndrome tíbia ausente - polidactilia - cisto aracnóide é uma constelação muito rara de múltiplas anomalias, incluindo ausência ou hipoplasia da tíbia.
Introdução
O que você precisa saber de cara
A síndrome de tíbia ausente, polidactilia e cisto aracnoide, também conhecida como síndrome de Holmes-Collins, é uma doença hereditária multissistêmica muito rara, caracterizada por dismorfismos faciais, polidactilia pré/pós-axial, sindactilia dos dedos dos pés, tíbia ausente ou subdesenvolvida e a presença de um cisto aracnoide retrocerebelar. Achados adicionais incluem pés equinovaros, lábio leporino, agenesia diafragmática e anomalias radiais e ulnares.
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Entender a doença
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
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 tíbia ausente-polidactilia-cisto aracnoide
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Pesquisa ativa
Ensaios clínicos abertos e novidades científicas recentes
Pesquisa e ensaios clínicos
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RMD openA novel likely pathogenetic variant p.(Cys235Arg) of the MEN1 gene in multiple endocrine neoplasia type 1 with multifocal glucagonomas.
Journal of endocrinological investigationSchwann cells modulate nociception in neurofibromatosis 1.
JCI insightMolecular analysis of cancer genomes in children with Lynch syndrome: Exploring causal associations.
International journal of cancerDiscovery of U2AF1 neoantigens in myeloid neoplasms.
Journal for immunotherapy of cancerAn aggressive cabergoline-resistant, temozolomide-responsive macroprolactinoma due to a germline SDHB pathogenic variant in the absence of paraganglioma or pheochromocytoma.
Frontiers in endocrinologyAIM2 inflammasome: A potential therapeutic target in ischemic stroke.
Clinical immunology (Orlando, Fla.)Genotype-phenotype correlations in paediatric and adolescent phaeochromocytoma and paraganglioma: a cross-sectional study.
Archives of disease in childhoodEffects of Gender and Vitamin D on Vascular Reactivity of the Carotid Artery on a Testosterone-Induced PCOS Model.
International journal of molecular sciences'Testicular masquerade': a case report of testicular malignancy with persistent Müllerian duct syndrome and transverse testicular ectopia.
Annals of the Royal College of Surgeons of EnglandA nonsense mutation in VHL causing Von Hippel-Lindau syndrome in a large Chinese family-a genetic study of familial neoplastic disease.
The International journal of neurosciencevon Hippel-Lindau disease-related neoplasia with an emphasis on renal manifestations.
Seminars in diagnostic pathologyAcute kidney injury is an unfavorable prognostic factor in acute liver failure and is associated with tumor necrosis factor-alpha.
MedicineFunctional and phenotypic consequences of an unusual inversion in MSH2.
Familial cancerThe RRAS2 pathogenic variant (c.67G>T; p. Gly23Cys) produces Noonan syndrome with embryonal rhabdomyosarcoma.
Molecular genetics & genomic medicineSociodemographic and clinical characterization of cases of 1,103 non-syndromic and 66 syndromic odontogenic keratocyst: a Brazilian multicenter study.
Clinical oral investigationsA de novo missense mutation in MPP2 confers an increased risk of Vogt-Koyanagi-Harada disease as shown by trio-based whole-exome sequencing.
Cellular & molecular immunologySafety and Efficacy of NY-ESO-1 Antigen-Specific T-Cell Receptor Gene-Transduced T Lymphocytes in Patients with Synovial Sarcoma: A Phase I/II Clinical Trial.
Clinical cancer research : an official journal of the American Association for Cancer ResearchGood's syndrome: brief overview of an enigmatic immune deficiency.
APMIS : acta pathologica, microbiologica, et immunologica ScandinavicaHeterogeneity of TPIT expression in ACTH-secreting extra-pituitary neuroendocrine tumors (NETs) supports the existence of different cellular programs in pancreatic and pulmonary NETs.
Virchows Archiv : an international journal of pathologyLocal and Systemic Immunity During Five Vaccinations Against SARS-CoV-2 in Zanubrutinib-Treated Patients With Chronic Lymphocytic Leukemia.
Journal of hematologyMAGED2 Depletion Promotes Stress-Induced Autophagy by Impairing the cAMP/PKA Pathway.
International journal of molecular sciencesGiant right atrial myxoma presented with symptoms of Budd-Chiari syndrome: a case report.
Annals of medicine and surgery (2012)Variants in PTEN Are Associated With a Diverse Spectrum of Cortical Dysplasia.
Pediatric neurologyAnesthesia management of a patient with Meigs' syndrome: A case report and literature review.
International journal of surgery case reportsDiagnosis and management of Abernethy syndrome.
Revista espanola de enfermedades digestivasBruns syndrome in a patient with intraventricular subependymoma: a case report.
Postepy psychiatrii neurologiiIntracranial arachnoid cysts.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryResearch progress of small-molecule drugs in targeting telomerase in human cancer and aging.
Chemico-biological interactionsClinical and molecular heterogeneity of syndromic hypothalamic hamartoma.
American journal of medical genetics. Part ACancer in growth hormone excess and growth hormone deficit.
Endocrine-related cancerAssociações
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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.
- Paraneoplastic neuromyelitis optica spectrum disorder with dual AQP4-IgG and CRMP5 antibodies following thymectomy: a case report.
- Gallbladder neuroendocrine carcinoma: a rare cause of ectopic ACTH secretion.
- A pan-cancer compendium of 1,294 plasma cell-free DNA methylomes and fragmentomes enabling multicancer detection.
- Failure of podocalyxin suppression and HOXA10/HOXA11 activation characterizes endometrial dysfunction in hyperandrogenic PCOS.
- Toward Timely Diagnosis of Pancreatic Cancer: Revolutionizing Early Detection Through Genomics, Artificial Intelligence, and Noninvasive Biomarkers.
- Targeted treatment in complex lymphatic anomaly: a case of synergistic efficacy of trametinib and sirolimus.
- Fulfillment status of hypertriglyceridemia and hypofibrinogenemia in children with hemophagocytic lymphohistiocytosis and risks of multiple organ dysfunction syndrome and early mortality.
- Clinical profiles and risk factors of 7-day and 30-day mortality among 160 pediatric patients with hemophagocytic lymphohistiocytosis.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:3328(Orphanet)
- MONDO:0010981(MONDO)
- GARD:5210(GARD (NIH))
- Busca completa no PubMed(PubMed)
- Q55782897(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