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Síndrome de tíbia ausente-polidactilia-cisto aracnoide
ORPHA:3328CID-10 · Q87.5OMIM 601027DOENÇA RARA

O síndrome tíbia ausente - polidactilia - cisto aracnóide é uma constelação muito rara de múltiplas anomalias, incluindo ausência ou hipoplasia da tíbia.

Mantido por Agente Raras·Colaborar como especialista →

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

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
3
pacientes catalogados
Início
Infancy
+ neonatal
🏥
SUS: Cobertura mínimaScore: 15%
CID-10: Q87.5
🇧🇷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
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Sinais e sintomas

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Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Últimos 10 anos200publicações
Pico202592 papers
Linha do tempo
2026Hoje · 2026📈 2025Ano 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

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Nenhum gene associado encontrado

Os dados genéticos desta condição ainda estão sendo catalogados.

Diagnóstico

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Tratamento e manejo

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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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Publicações mais relevantes

🥉Melhor nível de evidência: Relato de caso
Timeline de publicações
0 papers (10 anos)
#1

Paraneoplastic neuromyelitis optica spectrum disorder with dual AQP4-IgG and CRMP5 antibodies following thymectomy: a case report.

Frontiers in neuroscience2026

We present a rare case of paraneoplastic neuromyelitis optica spectrum disorder (NMOSD) in a 50-year-old woman with a history of B3 thymoma, marked by dual positivity for AQP4-IgG and CV2/CRMP5 antibodies. The patient developed sequential bilateral optic neuritis, with orbital MRI revealing enhancement of the left optic nerve. Serological analysis showed a high AQP4-IgG titer (1:320) and positive CV2/CRMP5 antibodies, while other paraneoplastic markers were absent. Treatment with glucocorticoids and mycophenolate mofetil led to substantial visual recovery. This case underscores the association between thymoma and paraneoplastic NMOSD and suggests a potential interaction between AQP4- and CRMP5-related autoimmune responses. Although CV2/CRMP5 antibodies are typically linked to lung cancer and thymoma, their coexistence with AQP4-IgG in NMOSD points to a distinct paraneoplastic mechanism. These findings support the need for thorough tumor screening in NMOSD patients with atypical features, particularly those with CV2/CRMP5 seropositivity.

#2

Gallbladder neuroendocrine carcinoma: a rare cause of ectopic ACTH secretion.

BMJ case reports2026 Feb 10

This report presents a case of a middle-aged man who was incidentally diagnosed with a gallbladder (GB) mass. Though he had some features of Cushing syndrome (CS), including those due to mineralocorticoid effects (persistent hypokalaemia), the classical features were absent. Abdominal CT scan showed a large mass arising from the GB with liver and lymph node metastasis. Biochemical evaluation confirmed adrenocorticotropic hormone (ACTH)-dependent CS. A biopsy from the mass revealed a poorly differentiated neuroendocrine carcinoma. The patient was started on ketoconazole and appropriate management for other complications. Chemotherapy was poorly tolerated and hence discontinued. The patient eventually succumbed to his illness. This case illustrates how the absence of classical Cushingoid features can mask ectopic ACTH secretion, with persistent unexplained hypokalaemia serving as a key diagnostic clue in our case. It also emphasises the difficulty of identifying a neuroendocrine tumour arising from a rare, unsuspected primary site.

#3

A pan-cancer compendium of 1,294 plasma cell-free DNA methylomes and fragmentomes enabling multicancer detection.

Nature cancer2026 Feb

Cell-free DNA analysis via methylation and fragmentation profiling has advanced minimally invasive cancer detection; however, broader application has been limited by small cohorts and inconsistent data processing. Here we collated 1,074 cfMeDIP-seq profiles across 9 studies, comprising cancer samples from 11 cancer types, carriers of Li-Fraumeni syndrome and healthy controls. We developed a uniform computational workflow to mitigate technical and biological confounders across cohorts. This analysis identified 14,202 pancancer differentially methylated regions for cancer detection, along with cancer-specific markers for subtype monitoring. Fragmentomic profiling revealed distinguishing differences in 5' end motifs, fragment lengths and nucleosome footprints across cancers. Integrating methylome and fragmentome features enhanced cancer detection and classification. Validation in 220 independent samples, including 3 cancer types absent from the primary dataset, confirmed the robustness of our findings. Altogether, this work provides a pancancer cell-free DNA resource of 1,294 samples to support future methylome and fragmentome studies.

#4

Failure of podocalyxin suppression and HOXA10/HOXA11 activation characterizes endometrial dysfunction in hyperandrogenic PCOS.

Molecular and cellular endocrinology2026 Jun

To analyze the effects of hyperandrogenemia (HA) in polycystic ovary syndrome (PCOS) on negative and positive regulators of endometrial receptivity. Fifty-four women with PCOS undergoing total embryo freezing were classified into four phenotypes: classical type A, classical type B, ovulatory type C, and normoandrogenic type D. Hyperandrogenemia was present in phenotypes A-C and absent in phenotype D. Twenty-five age-matched infertile women without clinical or biochemical features of PCOS served as controls. Endometrial sampling was performed on day five after oocyte retrieval. Relative PCX mRNA and protein levels, together with HOXA10 and HOXA11 mRNA expression, were evaluated. Immunohistochemical analysis was performed to assess the spatial distribution of PCX, and H-score values were compared between the PCOS and control groups. PCX mRNA expression and protein concentration were significantly higher in the PCOS group compared with controls (all p < 0.001), consistent with the significantly higher H-score values observed in the PCOS group (p < 0.001). In contrast, HOXA10 and HOXA11 mRNA expression levels were significantly reduced in PCOS patients (all p < 0.001). Among PCOS phenotypes, those associated with hyperandrogenemia exhibited significantly lower HOXA10 and HOXA11 expression than the normoandrogenic phenotype (all p < 0.005). PCX mRNA and protein levels were significantly higher in classical and ovulatory hyperandrogenic phenotypes compared with the normoandrogenic group (all p < 0.005). PCX was identified as a negative predictor of HOXA10 and HOXA11 expression, while testosterone negatively predicted HOXA10 and HOXA11. Insulin resistance and testosterone were positive predictors of PCX expression, whereas progesterone levels on the day of oocyte retrieval and on day five after retrieval were negative predictors of PCX expression. Hyperandrogenemia disrupts the physiological mid-luteal downregulation of PCX and the upregulation of HOXA10 and HOXA11, leading to impaired endometrial receptivity and displacement of the implantation window in PCOS.

#5

Toward Timely Diagnosis of Pancreatic Cancer: Revolutionizing Early Detection Through Genomics, Artificial Intelligence, and Noninvasive Biomarkers.

Journal of gastroenterology and hepatology2026 Mar

Pancreatic ductal adenocarcinoma (PDAC) remains one of the most aggressive cancers, typically diagnosed at an advanced stage due to its subtle and often absent early symptoms. Despite representing only 3% of new cancer cases, it is projected to become the second leading cause of cancer-related deaths by 2030. Currently, early diagnosis remains a significant challenge, and survival rates remain poor due to the lack of effective screening tools. We conducted a comprehensive literature review to explore the most recent advances in PDAC detection, focusing on novel biomarkers, liquid biopsies, artificial intelligence (AI)-enhanced imaging, and non-invasive surveillance strategies. We examined the role of circulating tumor DNA (ctDNA), microRNAs, and volatile organic compounds (VOCs) as diagnostic tools, alongside the integration of advanced imaging modalities like MRI, EUS, and MRCP in high-risk individuals, including those with hereditary cancer syndromes. Emerging technologies, such as AI-driven imaging and liquid biopsy, have shown promising improvements in detecting PDAC at earlier, potentially resectable stages. Surveillance strategies for high-risk populations, including BRCA1/2 mutation carriers and individuals with Lynch syndrome, have demonstrated increased detection of Stage I PDAC, offering a significant opportunity for curative intervention. AI and machine learning techniques are also enhancing the sensitivity and specificity of imaging, providing a new frontier in early-stage diagnosis. The integration of molecular diagnostics, advanced imaging technologies, and AI may enable a paradigm shift in PDAC detection, transitioning from late to early-stage diagnosis and potentially improving survival rates. However, further clinical validation and standardization of these technologies are essential to ensure their widespread clinical adoption. The future of PDAC detection lies in a multimodal, personalized approach, optimizing diagnostic accuracy and early intervention for high-risk individuals.

Publicações recentes

Ver todas no PubMed

📚 EuropePMCmostrando 198

2026

Paraneoplastic neuromyelitis optica spectrum disorder with dual AQP4-IgG and CRMP5 antibodies following thymectomy: a case report.

Frontiers in neuroscience
2026

Localized Pulmonary Amyloidosis Associated With Sjögren's Syndrome, Coexisting Lymphoid Interstitial Pneumonia, and a Severe Double Aortic Lesion: A Case Report and Literature Review.

Cureus
2026

Olfactory Groove Meningioma Presenting With Visual Decline and Gait Disturbance: A Case Report.

Cureus
2026

In-depth Genetic and Molecular Characterization of Unilateral Coexisting Adrenal Cortical Adenoma and Carcinoma in the Context of MEN1 Syndrome.

Endocrine pathology
2026

Gallbladder neuroendocrine carcinoma: a rare cause of ectopic ACTH secretion.

BMJ case reports
2026

Human Meningiomas Reveal No Evidence of Neuroendocrine Differentiation.

APMIS : acta pathologica, microbiologica, et immunologica Scandinavica
2026

Multiple endocrine neoplasia with an atypical clinical course and a MEN1 gene variant of uncertain pathogenicity: A case report.

Medicine
2026

Clinical Characteristics and Management of Two Cases of Complete Androgen Insensitivity Syndrome With Germ Cell Tumors.

Cancer reports (Hoboken, N.J.)
2026

Divergent pathophysiological drivers of polycystic ovary syndrome: insulin resistance independently fuels the hyperandrogenic phenotype whilst neuroendocrine factors dominate non-hyperandrogenic presentations.

Frontiers in endocrinology
2026

A pan-cancer compendium of 1,294 plasma cell-free DNA methylomes and fragmentomes enabling multicancer detection.

Nature cancer
2026

Failure of podocalyxin suppression and HOXA10/HOXA11 activation characterizes endometrial dysfunction in hyperandrogenic PCOS.

Molecular and cellular endocrinology
2026

Nonmetastatic Pulmonary Carcinoid Presenting With Carcinoid Syndrome Despite Negative 5-HIAA: A Case Report.

Case reports in endocrinology
2026

Toward Timely Diagnosis of Pancreatic Cancer: Revolutionizing Early Detection Through Genomics, Artificial Intelligence, and Noninvasive Biomarkers.

Journal of gastroenterology and hepatology
2025

From Diagnosis, Therapy Decision-Making to Genetic Risk Assessment: The Impact of ctDNA Testing on Comprehensive Cancer Management-A Case Report.

Journal of the National Comprehensive Cancer Network : JNCCN
2026

Atypical Interplay of Dermatomyositis, Metastatic Caecal Carcinoma, and Connective Tissue Disease.

Cureus
2026

Impact of smoking or second-hand smoke exposure on metabolic and hormonal levels in women with polycystic ovary syndrome: A systematic review and meta-analysis.

European journal of obstetrics, gynecology, and reproductive biology
2025

Jugular Paraganglioma Presenting As Isolated Hypoglossal Nerve Palsy: An Anatomical Enigma.

Cureus
2025

Genetic investigation of a Tunisian family with Lynch syndrome: a case report.

Frontiers in oncology
2026

Phase-dependent cytokine signatures in alcohol use disorder: A systematic review of psychoneuroimmune links to withdrawal severity and return to drinking.

Psychoneuroendocrinology
2026

Atypical Histopathological Findings in an Epilepsy Surgery Case of Sturge-Weber Syndrome With Coexisting Developmental Venous Anomaly.

Neuropathology : official journal of the Japanese Society of Neuropathology
2026

Perioperative Blood Biomarkers of Infectious and Non-Infectious Postoperative Pulmonary Complications: A Narrative Review.

Journal of clinical medicine
2026

[TRPS1 as a novel immunohistochemical marker in breast cancer diagnosis].

Arkhiv patologii
2026

Thyroid Eye Disease-Like Conditions Associated With Cancer and Immune Check Point Blockage: Systematic Literature Review and Case Report.

Ophthalmic plastic and reconstructive surgery
2026

Diverse NF2 alterations in cranial schwannomas: a two-case series of germline whole-gene deletion and somatic in-frame deletion.

Brain tumor pathology
2026

Novel variants in STAG2 and PKD1 associate with multiple congenital malformations and autosomal dominant polycystic kidney disease in a Chinese family: A case report and literature review.

Experimental and therapeutic medicine
2025

Incomplete Vogt-Koyanagi-Harada Syndrome Presenting With Sunset Glow Fundus, Vitiligo, Preserved Vision, and Incidental CA 19-9 Elevation.

Cureus
2025

Microplastic Exposure and Its Dual Impact on Metabolic Syndrome and Pathways of Colorectal Carcinogenesis: A Systematic Review of Epidemiological, Experimental, and Mechanistic Evidence.

Journal of toxicology
2026

A case report: Guillain-Barré syndrome probably associated with TNF inhibitor in Blau syndrome.

BMC pediatrics
2025

Hypokalemic metabolic alkalosis as a clinical clue to ectopic ACTH syndrome: two cases of neuroendocrine carcinoma.

Endocrine regulations
2025

Antioxidant Effects of Aqueous Bidens pilosa in Fructose-Fed Rats.

Cureus
2025

Dysmenorrhoea presentation in Herlyn-Werner-Wunderlich syndrome: A case study.

JPMA. The Journal of the Pakistan Medical Association
2026

Characterization of chromosome 5 aberrations in TP53 mutated myeloid neoplasms with ≥5% blasts: An International TP53 Investigators Network (iTiN) study.

Cancer
2025

[Middle segmental gastrectomy for stomach cancer].

Khirurgiia
2025

Persistent Genital Arousal Associated With a Tarlov Cyst: A Case Report.

Cureus
2026

[Malignant peripheral nerve sheath tumor presenting with Pancoast syndrome in a ‍patient with neurofibromatosis type 1].

Rinsho shinkeigaku = Clinical neurology
2026

Video-Polysomnography in Peripheral Nerve Hyperexcitability: Clues to Morvan Syndrome in Two Patients and Literature Review.

Journal of clinical neurophysiology : official publication of the American Electroencephalographic Society
2025

A Rare Autopsy Finding of Müllerian and Renal Agenesis Linked to Suspected AMHR2 Pathway Disruption.

Cureus
2025

[Clinical implications of morular metaplasia in fertility-preserving treatment for endometrial hyperplasia and grade 1 endometrial endometrioid carcinoma patients].

Zhonghua fu chan ke za zhi
2025

Co-occurrence of two monogenic diseases within a single family.

European journal of dermatology : EJD
2025

De Novo Missense Variant in TP63 Gene: Insights on Clinical and Molecular Investigations.

The journal of gene medicine
2025

Non-WNT/non-SHH medulloblastoma in siblings: case report and literature review.

Discover oncology
2025

Role and interaction of LncRNAs and insulin resistance in polycystic ovary syndrome: a narrative review.

Journal of ovarian research
2025

MOF promotes cisplatin resistance in lung cancer cells by enhancing WSTF acetylation.

In vitro cellular &amp; developmental biology. Animal
2025

Chronic Glomerular Thrombotic Microangiopathy in a 72-Year-Old Patient with B-Cell Chronic Lymphocytic Leukemia and IgG Lambda Paraprotein.

International journal of molecular sciences
2025

Chronic and Atypical Presentation of Superior Vena Cava Syndrome: A Case Report.

Cureus
2025

A new type of sirenomelia with dysplastic upper limb and cystic hygroma diagnosed in early pregnancy through 2D and 3D ultrasonography: case report.

Taiwanese journal of obstetrics &amp; gynecology
2025

Philadelphia Chromosome-Negative Hyperdiploid B-cell Acute Lymphoblastic Leukemia Presenting As Hemophagocytic Lymphohistiocytosis in a Young Adult: A Case Report.

Cureus
2025

Kidney organoids in translational research: disease modeling, drug discovery, and unresolved challenges.

Cell and tissue research
2026

Novel missense mutations in the tumor necrosis factor domain of Ectodysplasin-A cause non-syndromic tooth agenesis in two Chinese families.

Archives of oral biology
2025

Clinical and tumor features of patients with immune checkpoint inhibitor-related neurological disorders and anti-Yo antibodies.

Therapeutic advances in neurological disorders
2025

Molecular pathogenesis, diagnosis, and management challenges in complete androgen insensitivity syndrome.

Frontiers in endocrinology
2025

Jiao-tai-wan and its component coptisine attenuate PCOS by regulating mitochondrial cholesterol import through suppression of SIRT1 ubiquitination.

Phytomedicine : international journal of phytotherapy and phytopharmacology
2025

[Comparison of minimally invasive and traditional surgical treatment of extramedullary tumors of the craniovertebral junction].

Zhurnal voprosy neirokhirurgii imeni N. N. Burdenko
2025

Sinonasal Tract Osteochondromyxoma: An Underrecognized Tumor Easily Mistaken for Nasal Chondromesenchymal Hamartoma.

Head and neck pathology
2025

Constrained hypermutation and absence of TERT promoter mutations in Lynch syndrome-associated urothelial cancer.

Cell reports
2025

The Targets of Immune Adverse Events in Cancer Immunotherapy by Combined Check-point Inhibitors Resemble those Seen in IPEX Patients.

Journal of clinical immunology
2025

OXTR overexpression induces polycystic ovary syndrome-like phenotype via prolactin/p-STAT3 signaling in mice.

Molecular and cellular endocrinology
2025

PTEN hamartoma of soft tissue (PHOST) and fibroadipose vascular anomaly (FAVA): a comparative clinicopathologic and molecular analysis.

Virchows Archiv : an international journal of pathology
2025

Estimated global prevalence of genetic carriers of hereditary pheochromocytoma-paraganglioma syndrome in a large multiethnic genomic database.

European journal of endocrinology
2026

Bridging the Gap between Hypothyroidism and Precocious Puberty: A Case Report of Van Wyk Grumbach Syndrome.

Journal of pediatric and adolescent gynecology
2025

Expanded CD4+CD57+ T-large granular lymphocytes: A diagnostic pitfall in blood staging of mycosis fungoides/Sézary syndrome.

American journal of clinical pathology
2025

Embolic complications of cardiac myxomas: A case report of acute ischemia in a young woman.

International journal of surgery case reports
2026

False-positive results of adrenal venous sampling due to mild autonomous cortisol secretion in a patient with primary aldosteronism: a case report with review of literature.

Endocrine journal
2025

Downregulation of MICA/MICB improves cell persistence and clinical activity of NKG2DL CAR T-cells in patients with relapsed or refractory acute myeloid leukemia or myelodysplastic neoplasia.

Leukemia
2025

Disrupted Biotensegrity in the Fiber Cellular Fascial Network and Neuroma Microenvironment: A Conceptual Framework for "Phantom Limb Pain".

International journal of molecular sciences
2025

[Diseases of the Thymus in domestic mammals: Significance and diagnosis].

Tierarztliche Praxis. Ausgabe G, Grosstiere/Nutztiere
2025

Functional Outcomes and Quality of Life in Patients Managed With Organ Preservation Following Total Neoadjuvant Therapy for Rectal Cancer-A Historical Cohort Study.

ANZ journal of surgery
2025

SF3B1-mutant models of RNA mis-splicing uncover UBA1 as a therapeutic target in myelodysplastic neoplasms.

Leukemia
2025

Cross-Sectional Imaging of Pelvic Inflammatory Disease: Diagnostic Pearls and Pitfalls on CT and MR.

Diagnostics (Basel, Switzerland)
2025

Lung Carcinoids in Adolescents and Young Adults (AYAs): A Still Overlooked Clinical Entity.

Current oncology (Toronto, Ont.)
2025

Characterizing Developmental and Behavioral Profiles in Developmental Synaptopathies to Inform Clinical Trial Endpoints.

American journal on intellectual and developmental disabilities
2025

Oral glucose tolerance test-induced increases in femoral blood flow are absent in nonobese females with polycystic ovary syndrome.

American journal of physiology. Endocrinology and metabolism
2025

Pilomatricoma in Syndromic Contexts: A Literature Review and a Report of a Case in Apert Syndrome.

Dermatopathology (Basel, Switzerland)
2025

Cysteine mediates the association of essential trace elements with polycystic ovary syndrome: Does ambient particulate matters exposure modify the mediation effect of cysteine.

Ecotoxicology and environmental safety
2025

Dynamic progression of Wernicke encephalopathy in a gastric cancer patient: Multimodal MRI insights with arterial spin labeling perfusion imaging.

Medicine
2025

Absence of Deep and Basal Veins Is Common and Clinically Relevant in Sturge-Weber Syndrome.

Pediatric neurology
2025

Anti-LGI1-antibody autoimmune encephalitis as a neurological paraneoplastic syndrome associated with gastrointestinal stromal tumour: a case report.

Postepy psychiatrii neurologii
2025

Low-Grade Appendiceal Mucinous Neoplasm in a Patient With Ulcerative Colitis Detected on Routine Surveillance Colonoscopy: A Case Report and Review of Literature.

Cureus
2025

Cervical Tenderness (Parametropathy) is a Diagnostic Tool for the Chronic Pelvic Pain Syndrome.

Pain and therapy
2025

Evaluating the consistency of SMARCB1 variant classification and assertions of genotype-phenotype relationships in ClinVar.

Cancer genetics
2025

Zinner Syndrome Presenting With Chronic Pelvic Pain and Ejaculatory Dysfunction.

IJU case reports
2025

Certain pMMR colorectal cancer patients should undergo additional MSI-PCR testing to reduce the risk of misdiagnosing MSI-H and Lynch syndrome.

BMC cancer
2025

The CXCL16/CXCR6 axis is linked to immune effector cell-associated neurotoxicity in chimeric antigen receptor (CAR) T cell therapy.

Genome medicine
2025

Innate lymphoid cells in bone marrow and peripheral blood of healthy individuals and in bone marrow of patients with myelodysplastic syndromes.

Frontiers in immunology
2025

Changes in Glucose level During Chemotherapy Treatment in Patients With Stage I-IV Breast Cancer.

Clinical breast cancer
2025

Significance of the Absence of Focal Areas of Signal Intensity on Brain Magnetic Resonance Imaging Examinations in Legius Syndrome.

Pediatric neurology
2025

Clinical correlation and prognostic impact of cytogenetic clone size for myelodysplastic syndromes/neoplasm.

Blood neoplasia
2025

Paraneoplastic autoimmune retinopathy associated with anti-enolase antibodies in a patient with lung cancer remission.

European journal of ophthalmology
2025

Potential factors underlying the progression of RUNX1-mutated MDS to AML.

Cancer genetics
2025

A Systematic Review of Inflammatory Markers in Polycystic Ovary Syndrome (PCOS) and Meta-Analysis of Interleukin-6 (IL-6) in Case-Control Studies.

Cureus
2025

Uncommon phenotypes of BCR::ABL1-positive chronic myelogenous leukemia.

Haematologica
2025

Phenotypic spectrum and long-term outcomes of patients with 46,XX disorders of sex development.

Annals of pediatric endocrinology &amp; metabolism
2025

Polycystic ovary syndrome patients with metabolic dysfunction-associated steatotic liver disease - comparison of the diagnostic methods.

Endokrynologia Polska
2025

Cutaneous Fibrofolliculomas and Trichodiscomas in Birt-Hogg-Dubé Syndrome: A Review of Therapeutic Surgical Strategies.

Dermatologic surgery : official publication for American Society for Dermatologic Surgery [et al.]
2025

Metformin use in women with polycystic ovary syndrome (PCOS): Opportunities, benefits, and clinical challenges.

Diabetes, obesity &amp; metabolism
2025

Long-term Effects of SARS-CoV-2 Infection on Children's Vasculature.

The Pediatric infectious disease journal
2025

Bilateral horizontal gaze palsy, esotropia, and diplopia secondary to anti-Hu paraneoplastic syndrome.

Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus
2025

Lipid Dominant Toxic Tumor Syndrome.

Ocular oncology and pathology
2025

Ultrasound Screening in the First and Second Trimester of Pregnancy for the Detection of Fetal Cardiac Anomalies in a Low-Risk Population.

Diagnostics (Basel, Switzerland)
2025

Central Nervous System Manifestations of Cutaneous Lymphomas.

Current neurology and neuroscience reports
2025

Idiopathic Arginine Vasopressin Deficiency With Mild and Reversible Hypercalcemia.

Ochsner journal
2025

Ectopic ACTH syndrome secondary to small-cell oropharyngeal cancer.

BMJ case reports
2025

Pancreatic Mixed Acinar-neuroendocrine Carcinoma in a Patient With a Germline PTEN Variant: A Case Report and Genomic Literature Review.

In vivo (Athens, Greece)
2025

KDM1A genetic alterations, a rare cause of primary bilateral macronodular adrenal hyperplasia, strongly associated with food-dependent Cushing's syndrome: results of its systematic germline screening in 301 index cases and genotype/phenotype correlation.

European journal of endocrinology
2025

The Diagnostic Yield of Panel Versus Exome Sequencing to Identify Hereditary Cancer Disorders in Pediatric Cancer.

Journal of pediatric hematology/oncology
2025

Clinicopathological analysis of anti-VEGF drug-associated renal thrombotic microangiopathy: A case series and review of the literature.

Pathology, research and practice
2024

Shunt Dependency Syndrome Combined with Sinus Stenosis after Cyst-peritoneal Shunting of Arachnoid Cyst: A 20-year Rare Complication.

NMC case report journal
2025

Hormone circuit explains why most HPA drugs fail for mood disorders and predicts the few that work.

Molecular systems biology
2025

46, XY Complete Gonadal Dysgenesis (Swyer Syndrome) Presenting as Primary Amenorrhea in a Normomorphic Adult Female From Kakamega, Kenya.

Clinical case reports
2024

Adie's pupil and systemic manifestations: a rare unilateral presentation.

GMS ophthalmology cases
2025

Translational and clinical comparison of whole genome and transcriptome to panel sequencing in precision oncology.

NPJ precision oncology
2025

Retroperitoneal Müllerian cyst causing uterine protrusion in a teenage girl.

Taiwanese journal of obstetrics &amp; gynecology
2024

Healing by secondary intention over NeoDura applicated on a craniectomy defect: a case report and literature review.

Journal of medical case reports
2025

Factors affecting prognosis in open A1 pulley release surgery for trigger finger.

Joint diseases and related surgery
2025

B Cell Receptor Repertoire Analysis of the CD21lo B Cell Compartment in Healthy Individuals, Patients With Sjögren's Disease, and Patients With Radiographic Axial Spondyloarthritis.

European journal of immunology
2025

The landscape of primary mismatch repair deficient gliomas in children, adolescents, and young adults: a multi-cohort study.

The Lancet. Oncology
2025

Oligoastrocytoma: The Vanishing Entity With True Dual Genotype, a Report, its Molecular Profiles and Review of Literature.

International journal of surgical pathology
2024

Engineering a controllable and reversible switch for CAR-based cellular immunotherapies via a genetic code expansion system.

Journal of hematology &amp; oncology
2024

Exploring Self-Reported Symptoms for Developing and Evaluating Digital Symptom Checkers for Polycystic Ovarian Syndrome, Endometriosis, and Uterine Fibroids: Exploratory Survey Study.

JMIR formative research
2024

Beyond Hormones: A Systematic Review of the Risk of Cardiovascular Diseases in Polycystic Ovary Syndrome.

Cureus
2024

Fluorescent Aerolysin (FLAER) Binding Is Abnormally Low in the Clonal Precursors of Acute Leukemias, with Binding Particularly Low or Absent in Acute Promyelocytic Leukemia.

International journal of molecular sciences
2024

French AFU Cancer Committee Guidelines - Update 2024-2026: Upper urinary tract urothelial cancer (UTUC).

The French journal of urology
2024

Clinical presentation, investigation findings, and treatment outcomes of intraluminal small intestinal obstruction by bezoars and other materials in adult cows- a retrospective study of 110 cases.

BMC veterinary research
2025

Insights into the effects of sex and tissue location on the evolution of adipocyte dysfunction in an ovine model of polycystic ovary syndrome (PCOS).

Molecular and cellular endocrinology
2025

Beneficial Effects of Curcumin in Polycystic Ovary Syndrome: A Review of Recent Literature and Underlying Mechanisms.

Current medicinal chemistry
2024

Characterization and Clinical Outcome of Philadelphia Chromosome-Positive AML in Thrombocytopenia-Absent Radius Syndrome.

JCO precision oncology
2024

Case report: Artificial thymic organoids facilitate clinical decisions for a patient with a TP63 variant and severe persistent T cell lymphopenia.

Frontiers in immunology
2024

Paraneoplastic Motor Neuron Disease in a Patient With Sigmoid Colon Adenocarcinoma: A Case Report.

Cureus
2024

Infantile hemangioma precursor lesions on day of life 1: A Mayo Clinic retrospective case series.

Pediatric dermatology
2024

Zinner syndrome with contralateral hydronephrosis: A rare congenital condition.

Urology case reports
2025

Thyroid hormones for euthyroid patients with simple goiter growing over time: a survey of European thyroid specialists.

Endocrine
2024

Obstructed hemivagina and ipsilateral renal anomaly syndrome in an association with endometriosis: Role of Magnetic Resonance Imaging in diagnosis.

The Medical journal of Malaysia
2024

[Etiology, Clinical Characteristics and Prognosis of Secondary Hemophagocytic Syndrome].

Zhongguo shi yan xue ye xue za zhi
2024

Third-generation anti-CD19 CAR T cells for relapsed/refractory chronic lymphocytic leukemia: a phase 1/2 study.

Leukemia
2024

Modelling a self-defined CNN for effectual classification of PCOS from ultrasound images.

Technology and health care : official journal of the European Society for Engineering and Medicine
2024

Primary unilateral macronodular adrenal hyperplasia with concomitant glucocorticoid and androgen excess and KDM1A inactivation.

European journal of endocrinology
2024

[Conservative treatment in orthopedic oncology surgery ?].

Revue medicale de Liege
2024

Paraneoplastic neurological syndromes of small cell lung cancer.

Postepy psychiatrii neurologii
2024

Patient with Herlyn-Werner-Wunderlich syndrome and endometriosis achieves successful full-term pregnancy (40 weeks and 6 days): a case report.

Journal of medical case reports
2024

TRPS1 expression in MPNST is correlated with PRC2 inactivation and loss of H3K27me3.

Human pathology
2024

Spontaneous Sigmoid Colon Perforation and Ruptured Subserosal ("Zebra" Pattern) Small-Bowel Hematomas in Type IV Ehlers-Danlos Syndrome: A Case Report and a Short Review.

Journal of clinical medicine
2024

Real-world genetic testing outcomes of pan-cancer testing for mismatch repair deficiency.

Cancer
2025

A review of the genetic background in complicated WT1-related disorders.

Clinical and experimental nephrology
2024

HLA-DR3 ~ DQ2 associates with sensory neuropathy in paraneoplastic neurological syndromes with Hu antibodies.

Journal of neurology
2024

Prevalence of antiphospholipid autoantibodies associated with biologics treatment for psoriasis.

Scientific reports
2024

Cushing's disease with twin pregnancy and diabetes mellitus: a case report and literature review.

Endocrine journal
2024

Gyratory Seizures in Hypothalamic Hamartoma.

Journal of epilepsy research
2024

EPM2AIP1 immunohistochemistry is inadequate as a surrogate marker for MLH1 promoter hypermethylation testing in colorectal cancer.

Human pathology
2024

Demystifying the Mystery of Genes: A Case Report on Constitutional Mismatch Repair Deficiency.

The Indian journal of radiology &amp; imaging
2024

Hypogonadotropic hypogonadism with Zinner syndrome: a coincidence or a consequence?

BMJ case reports
2024

High LDL Particle and APOB Concentrations in Patients With Adrenal Cortical Adenomas.

The Journal of clinical endocrinology and metabolism
2024

Turner Syndrome With Y Chromosome and Germ Cells: A Case Report Highlighting the Need to Prioritize Individualized Care.

Urology
2024

Investigating GABA Neuron-Specific Androgen Receptor Knockout in two Hyperandrogenic Models of PCOS.

Endocrinology
2024

Genomic profiling of small bowel adenocarcinoma: a pooled analysis from 3 databases.

British journal of cancer
2024

Cerebellar Mutism Syndrome and Dentato-Thalamo-Cortical Tract Disruption in Diffusion Tractography Following Surgery for Medulloblastoma.

Radiology
2024

Novel insights into tumorigenesis revealed by molecular analysis of Lynch syndrome cases with multiple colorectal tumors.

Frontiers in oncology
2024

Fuzzy machine learning logic utilization on hormonal imbalance dataset.

Computers in biology and medicine
2024

[Mechanism of Kuntai Capsules in treatment of polycystic ovary syndrome rat models based on AGE-RAGE signal pathway].

Zhongguo Zhong yao za zhi = Zhongguo zhongyao zazhi = China journal of Chinese materia medica
2024

Nascent shifts in renal cellular metabolism, structure, and function due to chronic empagliflozin in prediabetic mice.

American journal of physiology. Cell physiology
2024

Molecular and pathologic data to guide selection of patients with endometrioid endometrial cancer for ovarian preservation.

International journal of gynecological cancer : official journal of the International Gynecological Cancer Society
2024

Predicting High-Risk Fetal Cardiac Disease Anticipated to Need Immediate Postnatal Stabilization and Intervention with Planned Pediatric Cardiac Operating Room Delivery.

Journal of the American Heart Association
2024

Hematologic malignancies and hematopoietic stem cell transplantation.

Handbook of clinical neurology
2024

Pre-admission virus detection during the COVID-19 pandemic in children with and without symptoms of infection.

Acta paediatrica (Oslo, Norway : 1992)
2024

Clinical features and impact of p53 status on sporadic mismatch repair deficiency and Lynch syndrome in uterine cancer.

Cancer science
2024

Treatment guidelines for rare, early-onset conditions associated with epileptic seizures: a literature review on Rett syndrome and tuberous sclerosis complex.

Orphanet journal of rare diseases
2024

Lessons in clinical reasoning - pitfalls, myths, and pearls: a case of tarsal tunnel syndrome caused by an intraneural ganglion cyst.

Diagnosis (Berlin, Germany)
2024

TRPS1 expression in non-melanocytic cutaneous neoplasms: an immunohistochemical analysis of 200 cases.

Journal of pathology and translational medicine
2024

Long-term safety and effectiveness of canakinumab in patients with monogenic autoinflammatory diseases: results from the interim analysis of the RELIANCE registry.

RMD open
2024

A novel likely pathogenetic variant p.(Cys235Arg) of the MEN1 gene in multiple endocrine neoplasia type 1 with multifocal glucagonomas.

Journal of endocrinological investigation
2024

Schwann cells modulate nociception in neurofibromatosis 1.

JCI insight
2024

Molecular analysis of cancer genomes in children with Lynch syndrome: Exploring causal associations.

International journal of cancer
2023

Discovery of U2AF1 neoantigens in myeloid neoplasms.

Journal for immunotherapy of cancer
2023

An aggressive cabergoline-resistant, temozolomide-responsive macroprolactinoma due to a germline SDHB pathogenic variant in the absence of paraganglioma or pheochromocytoma.

Frontiers in endocrinology
2024

AIM2 inflammasome: A potential therapeutic target in ischemic stroke.

Clinical immunology (Orlando, Fla.)
2024

Genotype-phenotype correlations in paediatric and adolescent phaeochromocytoma and paraganglioma: a cross-sectional study.

Archives of disease in childhood
2023

Effects of Gender and Vitamin D on Vascular Reactivity of the Carotid Artery on a Testosterone-Induced PCOS Model.

International journal of molecular sciences
2024

'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 England
2025

A 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 neuroscience
2024

von Hippel-Lindau disease-related neoplasia with an emphasis on renal manifestations.

Seminars in diagnostic pathology
2023

Acute kidney injury is an unfavorable prognostic factor in acute liver failure and is associated with tumor necrosis factor-alpha.

Medicine
2024

Functional and phenotypic consequences of an unusual inversion in MSH2.

Familial cancer
2024

The RRAS2 pathogenic variant (c.67G>T; p. Gly23Cys) produces Noonan syndrome with embryonal rhabdomyosarcoma.

Molecular genetics &amp; genomic medicine
2023

Sociodemographic and clinical characterization of cases of 1,103 non-syndromic and 66 syndromic odontogenic keratocyst: a Brazilian multicenter study.

Clinical oral investigations
2023

A de novo missense mutation in MPP2 confers an increased risk of Vogt-Koyanagi-Harada disease as shown by trio-based whole-exome sequencing.

Cellular &amp; molecular immunology
2023

Safety 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 Research
2023

Good's syndrome: brief overview of an enigmatic immune deficiency.

APMIS : acta pathologica, microbiologica, et immunologica Scandinavica
2023

Heterogeneity 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 pathology
2023

Local and Systemic Immunity During Five Vaccinations Against SARS-CoV-2 in Zanubrutinib-Treated Patients With Chronic Lymphocytic Leukemia.

Journal of hematology
2023

MAGED2 Depletion Promotes Stress-Induced Autophagy by Impairing the cAMP/PKA Pathway.

International journal of molecular sciences
2023

Giant right atrial myxoma presented with symptoms of Budd-Chiari syndrome: a case report.

Annals of medicine and surgery (2012)
2023

Variants in PTEN Are Associated With a Diverse Spectrum of Cortical Dysplasia.

Pediatric neurology
2023

Anesthesia management of a patient with Meigs' syndrome: A case report and literature review.

International journal of surgery case reports
2024

Diagnosis and management of Abernethy syndrome.

Revista espanola de enfermedades digestivas
2023

Bruns syndrome in a patient with intraventricular subependymoma: a case report.

Postepy psychiatrii neurologii
2023

Intracranial arachnoid cysts.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
2023

Research progress of small-molecule drugs in targeting telomerase in human cancer and aging.

Chemico-biological interactions
2023

Clinical and molecular heterogeneity of syndromic hypothalamic hamartoma.

American journal of medical genetics. Part A
2023

Cancer in growth hormone excess and growth hormone deficit.

Endocrine-related cancer

Associações

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Comunidades

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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. Paraneoplastic neuromyelitis optica spectrum disorder with dual AQP4-IgG and CRMP5 antibodies following thymectomy: a case report.
    Frontiers in neuroscience· 2026· PMID 41878006mais citado
  2. Gallbladder neuroendocrine carcinoma: a rare cause of ectopic ACTH secretion.
    BMJ case reports· 2026· PMID 41802720mais citado
  3. A pan-cancer compendium of 1,294 plasma cell-free DNA methylomes and fragmentomes enabling multicancer detection.
    Nature cancer· 2026· PMID 41714824mais citado
  4. Failure of podocalyxin suppression and HOXA10/HOXA11 activation characterizes endometrial dysfunction in hyperandrogenic PCOS.
    Molecular and cellular endocrinology· 2026· PMID 41713640mais citado
  5. Toward Timely Diagnosis of Pancreatic Cancer: Revolutionizing Early Detection Through Genomics, Artificial Intelligence, and Noninvasive Biomarkers.
    Journal of gastroenterology and hepatology· 2026· PMID 41692706mais citado
  6. Targeted treatment in complex lymphatic anomaly: a case of synergistic efficacy of trametinib and sirolimus.
    Orphanet J Rare Dis· 2024· PMID 38750525recente
  7. Fulfillment status of hypertriglyceridemia and hypofibrinogenemia in children with hemophagocytic lymphohistiocytosis and risks of multiple organ dysfunction syndrome and early mortality.
    Orphanet J Rare Dis· 2022· PMID 35410268recente
  8. Clinical profiles and risk factors of 7-day and 30-day mortality among 160 pediatric patients with hemophagocytic lymphohistiocytosis.
    Orphanet J Rare Dis· 2020· PMID 32867836recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:3328(Orphanet)
  2. MONDO:0010981(MONDO)
  3. GARD:5210(GARD (NIH))
  4. Busca completa no PubMed(PubMed)
  5. 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

Compêndio · Raras BR

Síndrome de tíbia ausente-polidactilia-cisto aracnoide

ORPHA:3328 · MONDO:0010981
Prevalência
<1 / 1 000 000
Casos
3 casos conhecidos
Herança
Unknown
CID-10
Q87.5 · Outras síndromes com malformações congênitas com outras alterações do esqueleto
OMIM
601027
Início
Infancy, Neonatal
Prevalência
0.0 (Worldwide)
MedGen
UMLS
C1832859
Wikidata
Evidência
🥉 Relato de caso
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