Raras
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Agenesia/hipoplasia femoral isolada
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Introdução

O que você precisa saber de cara

📋

Doença de Crohn é um tipo de doença inflamatória intestinal (DII) que pode afetar qualquer segmento do trato gastrointestinal. Os sintomas frequentemente incluem dor abdominal, diarreia, febre, distensão abdominal e perda de peso. Complicações fora do trato gastrointestinal podem incluir anemia, erupções cutâneas, artrite, inflamação ocular e fadiga. As erupções cutâneas podem ser devido a infecções, assim como pioderma gangrenoso ou eritema nodoso. Obstrução intestinal pode ocorrer como uma complicação da inflamação crônica, e aqueles com a doença correm um risco muito maior de câncer colorretal e câncer de intestino delgado.

Escala de raridade

CLASSIFICAÇÃO ORPHANET · BRASIL 2024
1-9 / 100 000
Ultra-rara
<1/50k
Muito rara
1/20k
Rara
1/10k
Pouco freq.
1/5k
Incomum
1/2k
Prevalência
1.6
Worldwide
Início
Antenatal
+ neonatal
🏥
SUS: Cobertura mínimaScore: 15%
CID-10: Q72.4
🇧🇷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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Entender a doença

Do básico ao detalhe, leia no seu ritmo

Preparando trilha educativa...

Sinais e sintomas

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

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1
Últimos 10 anos200publicações
Pico2026173 papers
Linha do tempo
2025Hoje · 2026
Publicações por ano (últimos 10 anos)

Encontrou um erro ou informação desatualizada? Sugira uma correção →

Genética e causas

O que está alterado no DNA e como passa nas famílias

🧬

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 — Agenesia/hipoplasia femoral isolada

🗺️

Selecione um estado ou use sua localização para ver resultados.

Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.

Pesquisa ativa

Ensaios clínicos abertos e novidades científicas recentes

Pesquisa e ensaios clínicos

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Publicações mais relevantes

Timeline de publicações
0 papers (10 anos)
#1

Clinical Features, Treatment Patterns, and Outcomes of Solitary Plasmacytoma in the United States: A National Cancer Database (NCDB) Analysis of Years 2004 to 2020.

American journal of clinical oncology2026 Mar 25

Solitary plasmacytoma is a rare plasma cell neoplasm with varying outcomes. This large IRB-approved retrospective analysis used the National Cancer Database (NCDB) to assess prognostic factors, treatment patterns, and overall survival (OS) among patients treated at Commission on Cancer-accredited facilities in the United States. Plasmacytoma patients (N=9427) from 2004 to 2020 were identified using the NCDB, excluding multiple myeloma. Descriptive statistics, Kaplan-Meier curves, and multivariate Cox regression analysis were used to evaluate survival outcomes by primary site, radiation dosage, and treatment modality. SAS version 9.4 was used to analyze the data. Among 9427 patients, solitary plasmacytoma of bone (P-Bone) comprised 73% and extramedullary plasmacytoma (P-EM) 27%. Median OS was 106 months for P-Bone versus 146 months for P-EM (P<0.0001). Combined radiation therapy and surgery achieved the longest median OS (181 mo) versus surgery alone (137 mo) and radiation alone (116 mo; P<0.0001). OS increased with higher radiation dose: <35 Gy (46.6 mo) to ≥50 Gy (176.4 mo; P<0.0001). Among P-Bone sites, skull/mandible lesions showed the best outcomes (122.3 mo). Radiation doses of 45 to 49.9 Gy predominated across most sites. This real-world study analyzes treatment patterns and overall survival in the largest plasmacytoma database to date. Combined surgery and radiation therapy show improved survival outcomes, emphasizing the need for personalized treatment approaches and the strength of combined modality therapy. Considering the primary bone site and radiation dosage aids prognostic assessment and treatment decision-making, contributing to plasmacytoma management and personalized care.

#2

Oral Semaglutide and Change in Cardiovascular Risk Factors in High-Risk Type 2 Diabetes: A Post Hoc Secondary Analysis of the SOUL Randomized Clinical Trial.

JAMA cardiology2026 Mar 25

Individuals with type 2 diabetes (T2D) are at high risk of atherosclerotic cardiovascular disease (ASCVD). In the SOUL randomized clinical trial, once-daily oral semaglutide reduced risk of major adverse cardiovascular (CV) events by 14% vs placebo in people with T2D and ASCVD and/or chronic kidney disease (CKD) receiving standard of care (SoC); however, whether oral semaglutide modifies recognized CV risk factors in the long term is unclear. To investigate whether treatment with oral semaglutide was associated with changes in ASCVD risk factors vs placebo. This secondary analysis comprises post hoc intention-to-treat analyses of the SOUL (A Heart Disease Study of Semaglutide in Patients With Type 2 Diabetes) double-blind multicenter randomized clinical trial (randomization 1:1 to oral semaglutide or placebo) among adults with T2D and ASCVD and/or CKD receiving SoC. Participants underwent randomization from June 2019 to March 2021, with a mean (SD) of 47.5 (10.9) months of follow-up, and data were analyzed from February to December 2025. Participants were treated with either once-daily oral semaglutide (maximum dose, 14 mg) or placebo, in addition to standard care. The primary outcome was the association of oral semaglutide vs placebo with glycated hemoglobin (HbA1c), body weight, and blood pressure (BP) using estimated treatment differences (ETDs) and with high-sensitivity C-reactive protein (hsCRP) and lipid plasma levels using estimated treatment ratios (ETRs). Of 9650 randomized participants (mean [SD] age, 66.1 (7.6) years; 2790 female participants [28.9%]), 9495 participants (98.4%) completed the trial. Early (13 weeks) improvements in HbA1c (-0.87 percentage points), body weight (-2.54%), systolic BP (SBP, -3.84 mm Hg), pulse pressure (-3.81 mm Hg), hsCRP (-18.08%), total cholesterol (TC, -7.00%), non-high-density lipoprotein cholesterol (non-HDL-C, -8.02%), HDL-C (-4.49%), and triglycerides (-8.15%) were observed with oral semaglutide vs placebo and sustained over the trial duration. Body weight reductions were gradual across both groups. At week 156, in favor of oral semaglutide were ETDs for HbA1c (-0.47 percentage points; 95% CI, -0.52 to -0.42), body weight (-3.26 percentage points; 95% CI, -3.55 to -2.98), SBP (-1.83 mm Hg; 95% CI, -2.47 to -1.18), and pulse pressure (-2.17 mm Hg; 95% CI, -2.72 to -1.61) and ETRs for hsCRP (0.77; 95% CI, 0.74-0.81), TC (0.99; 95% CI, 0.98-1.00), non-HDL-C (0.98; 95% CI, 0.97-0.99), HDL-C (1.01; 95% CI, 1.01-1.02), and triglycerides (0.94; 95% CI, 0.93-0.96). No significant treatment differences were observed for low-density lipoprotein cholesterol or diastolic BP. In this post hoc secondary analysis of the SOUL randomized clinical trial, oral semaglutide was associated with early and sustained improvements vs placebo in multiple ASCVD risk factors in high-risk participants with T2D and ASCVD and/or CKD, incremental to SoC. ClinicalTrials.gov Identifier: NCT03914326.

#3

When Rare Is Common-Rethinking Pediatric Genetic Care.

JAMA2026 Mar 25

This Viewpoint discusses the importance of rethinking care for pediatric patients with genetic disorders and how alignment between health systems, payers, professional societies, and clinicians could lead to a higher standard of care.

#4

Systemic Pharmacological Treatments for Chronic Plaque Psoriasis.

JAMA dermatology2026 Mar 25

Among adults with moderate to severe plaque psoriasis, how do systemic treatments compare in attaining a Psoriasis Area and Severity Index 90 (PASI 90) response and the occurrence of serious adverse events? Biologic therapies, particularly interleukin (IL)-17 and IL-23 inhibitors, provide the highest short-term likelihood of achieving PASI 90, while existing oral agents offer more modest efficacy but remain important options for patients who prefer noninjectable treatments. Severe adverse events were uncommon across all therapies and similar to placebo in the short term.

#5

Patient and Caregiver Perspectives on Hospital-at-Home in Saudi Arabia.

JAMA network open2026 Mar 02

This cross-sectional study evalutes patients’ perspectives and examine caregivers’ readiness for hospital-at-home services in Saudi Arabia.

Publicações recentes

Ver todas no PubMed

📚 EuropePMCmostrando 194

2026

Real-time continuous glucose monitoring with subcutaneously inserted sensor correlates better than subcutaneously implantable sensor with glycated hemoglobin, glycated albumin and fructosamine.

Minerva endocrinology
2026

Epithelial Gab1 Restricts Sepsis-Induced Intestinal Injury by Orchestrating TNF/NF-κB Axis.

Mediators of inflammation
2026

Investigation of Carbonic Anhydrase Inhibition, Antioxidant Properties, and Selective Anticancer Activity of Methyl-Substituted Halogenated and Methoxy Conduritols.

BioMed research international
2026

Sustaining a Promising Clinical Practice in High-Turnover Rural Environments Through the Geriatric Referral Navigator Role: Qualitative Case Study.

JMIR formative research
2026

Airway Management Risks in Pediatric Anesthesia: Reply.

Anesthesiology
2026

Robot-Assisted Therapy for Upper Limb Rehabilitation After Stroke: Umbrella Review.

Journal of medical Internet research
2026

Pd-catalyzed enantio- and diastereoselective synthesis of N-N atropisomeric indoles via N-alkylation reaction.

Chemical communications (Cambridge, England)
2026

Clinical Features, Treatment Patterns, and Outcomes of Solitary Plasmacytoma in the United States: A National Cancer Database (NCDB) Analysis of Years 2004 to 2020.

American journal of clinical oncology
2026

Phenolic and volatile constituents of Halogeton sativus (L.) moq., with anti-inflammatory, antioxidant, and photoprotective effects: a first report.

Natural product research
2026

Integrated study of toxicity, antitumor potential and biochemical changes induced by melatonin in Nauphoeta cinerea.

Natural product research
2026

Processed Foods and Food Dyes: What Are We Eating and What Is the Cardiovascular Risk?

Cardiology in review
2026

Real-World Effectiveness and Safety of Liuwei Dihuang Pill for Menopausal Syndrome: Protocol for a Prospective, Observational, Multicenter Cohort Study.

JMIR research protocols
2026

Uncovering the Independent Role of Lipid Peroxidation in Osteoporosis Through an Integrated Bibliometric and Bioinformatics Analysis.

Mediators of inflammation
2026

Revascularization Strategies for Ostial Left Anterior Descending Artery Chronic Total Occlusion: A Comprehensive Review.

Cardiology in review
2026

Float Nurses' Association With Nurse-Sensitive Indicators: A Cross-Sectional Study.

Journal of nursing care quality
2026

Comparative LC-HRMS-based phytochemical profiling of Campanula saxifraga subsp. meyeriana (Rupr.) Ogan and Campanula saxifraga subsp. aucheri (A.DC.) Ogan.

Natural product research
2026

UV irradiation alters TFAM binding specificity and compaction of DNA.

eLife
2026

Airway Management Risks in Pediatric Anesthesia: Comment.

Anesthesiology
2026

Italian research in Endodontics: a 30-year bibliometric analysis.

Minerva dental and oral science
2026

Impact of Variations in Commercial Standard Operating Procedure on Plasma Proteome Recovery.

Journal of proteome research
2026

Partitioning Parameters of N-Nitrosamines: An Intercomparison of Determination Methods.

The journal of physical chemistry. B
2026

Spin Effect of Transition Metal Oxides on Ammonia Decomposition.

Journal of the American Chemical Society
2026

Selective TRPV2 Antagonists Derived from the Natural Product Piperlongumine Inhibit Cancer Cell Migration and Metastasis.

ACS chemical biology
2026

Photo-induced benzannulation of 1,3-dicarbonyl compounds with alkynes under external-oxidant-free conditions.

Chemical communications (Cambridge, England)
2026

Determinants of private health insurance uptake and its association with healthcare utilization in Gulf Cooperation Council countries: a systematic review.

Global health action
2026

Entropy-Driven Design of Depolymerizable Polyolefins from Strained Bridged Bicyclic Monomers.

Journal of the American Chemical Society
2026

Iridium(III)-Catalyzed C-H Amidation With N‑Methoxyamide as an Amidation Reagent.

Chemistry, an Asian journal
2026

Missing Copyright in Figure Caption.

JAMA surgery
2026

Caution Before Routine Preoperative Hemoglobin A1c Testing.

JAMA surgery
2026

Oral Semaglutide and Change in Cardiovascular Risk Factors in High-Risk Type 2 Diabetes: A Post Hoc Secondary Analysis of the SOUL Randomized Clinical Trial.

JAMA cardiology
2026

Cost-Effectiveness of Familial Hypercholesterolemia Screening in Childhood and Early Adulthood-Reply.

JAMA
2026

When Rare Is Common-Rethinking Pediatric Genetic Care.

JAMA
2026

Systemic Pharmacological Treatments for Chronic Plaque Psoriasis.

JAMA dermatology
2026

Large Language Models in Pediatric Care-Moving Beyond the Hype.

JAMA network open
2026

Antipsychotic Medication for Older Individuals.

JAMA network open
2026

Patient and Caregiver Perspectives on Hospital-at-Home in Saudi Arabia.

JAMA network open
2026

Clostridioides difficile Infection Among Hospitalized Patients With Cancer.

JAMA network open
2026

Large Language Models Using Clinical Text in Pediatrics: A Scoping Review.

JAMA network open
2026

Brief Prescribing Support and Buprenorphine Adoption in Rural Primary Care: A Cluster Randomized Clinical Trial.

JAMA network open
2026

Shifts in Antipsychotic Prescribing by Clinician Type for Medicare Part D Beneficiaries, 2013-2023.

JAMA network open
2026

Methadone Dose and Patient-Directed Discharge in Hospitalized Patients With Opioid Use Disorder.

JAMA network open
2026

Single-Atom Cocatalyst-Loaded Semiconductors for Photo-Fenton-Like Wastewater Treatment.

Chemistry, an Asian journal
2026

Evaluation of Large Language Model Chatbot Responses to Psychotic Prompts.

JAMA psychiatry
2026

Diabetic foot ulcer-related amputation is associated with twofold increased risk of cardiovascular disease: A Korean National Health Information Database Study.

Journal of diabetes investigation
2026

Engineered Hydrogel Incorporated With Doped Carbon Dots Derived From Banana Peel for Pollutant Removal.

Chemistry, an Asian journal
2026

Finerenone, New-Onset Atrial Fibrillation, and Prognosis in HFpEF/HFmrEF-Reply.

JAMA cardiology
2026

Finerenone, New-Onset Atrial Fibrillation, and Prognosis in HFpEF/HFmrEF.

JAMA cardiology
2026

Procedural Memory Reconsolidation Following Multiple Reminders.

Psychological reports
2026

End-tidal carbon dioxide as a predictor of mortality in trauma patients: A systematic review and meta-analysis.

The journal of trauma and acute care surgery
2026

Definition of Severity and Relapse for Vitiligo: An International Consensus Statement.

JAMA dermatology
2026

Traumatic posterior mediastinal hematoma with left atrial compression: A case series of a rare, life-threatening entity.

The journal of trauma and acute care surgery
2026

Cost-Effectiveness of Familial Hypercholesterolemia Screening in Childhood and Early Adulthood.

JAMA
2026

The Journey of the "Asthmanaut": Communicating Dyspnea Through Poetry.

JAMA
2026

Incidence, Predictors, Management, and Clinical Impact of Major Bleeding Following Left Atrial Appendage Occlusion: The Amulet IDE Randomized Clinical Trial.

JAMA cardiology
2026

Caution Before Routine Preoperative Hemoglobin A1c Testing-Reply.

JAMA surgery
2026

A Woman With Pulmonary Arterial Hypertension, Hemangiomas, and Hyperpigmentation.

JAMA dermatology
2026

The Oncology Care Model and Medicare Payments, Utilization, and Quality.

JAMA
2026

Diagnosis, Workup, and Treatment of Idiopathic Granulomatous Mastitis.

JAMA dermatology
2026

Vitiligo Metrics Lack Multidimensional Severity Domains.

JAMA dermatology
2026

GH001 vs Placebo in Patients With Treatment-Resistant Depression: A Randomized Clinical Trial.

JAMA psychiatry
2026

Surgeons Sponsored for H-1B Visas in the US.

JAMA surgery
2026

Oncologic Risk of Missed Appendiceal Tumors in Acute Appendicitis.

JAMA surgery
2026

Prospective Evidence on Artificial Intelligence-Assisted Melanoma Diagnostics: A Systematic Review and Meta-Analysis.

JAMA dermatology
2026

Veterans Hospitals vs Non-Veterans Centers in the Prevention of Limb Loss.

JAMA surgery
2026

Consensus-based criteria for actionable hemorrhage in pediatric trauma: A Delphi study.

The journal of trauma and acute care surgery
2026

A Shared Call to Action for Amputation Prevention-Beyond Benchmarks.

JAMA surgery
2026

Methylphenidate Treatment and Risk of Psychotic Disorder.

JAMA psychiatry
2026

Linking EMS and Trauma Registry Data to Improve Outcomes.

JAMA surgery
2026

Successful Treatment of Acquired Idiopathic Generalized Anhidrosis With Baricitinib.

JAMA dermatology
2026

Oral Glucagon-Like Peptide-1 Therapies-Moving Beyond Needles.

JAMA cardiology
2026

Oncologic Implications of Nonoperative Appendicitis Treatment.

JAMA surgery
2026

Rewriting the Narrative on the Oncology Care Model.

JAMA
2026

AI Electrocardiogram as a Potential Surrogate for Septal Fibrosis-Reply.

JAMA cardiology
2026

AI Electrocardiogram as a Potential Surrogate for Septal Fibrosis.

JAMA cardiology
2026

Transcatheter Tricuspid Valve Replacement in a Patient With Small Right Atrium and Multiple Device Leads.

JACC. Case reports
2026

Discovery and Optimization of Benzenesulfonamides as Potent Influenza A Virus Hemagglutinin Inhibitors.

Journal of medicinal chemistry
2026

A spatially invariant noise model for minimum noise fraction (MNF) denoising of hyperspectral datasets: applications to large-scale infrared spectroscopic pathology.

The Analyst
2026

Refining Normoxemia Targets in Acute Burn Care: Opportunities Beyond Supplemental Oxygen-Free Days.

The journal of trauma and acute care surgery
2026

MiR-93-5p Loaded Lipid Nanoparticles Break the Dry Eye Vicious Cycle via Targeting MAP3K8.

ACS applied materials &amp; interfaces
2026

The heat treatment mechanism in regulating the self-discharge behavior of Li/CFx primary batteries.

Chemical communications (Cambridge, England)
2026

Fluorescence-Quenched Mycoloyl-Arabinofuranoside Analogs: Fluorogenic Probes for Mycobacterial Outer Membrane-Degrading Enzymes.

Chembiochem : a European journal of chemical biology
2026

HTLV-1 Genetic Diversity of 52 Complete Sequences from 14 African Countries Reveals Novel Variants and Lack of Typical P12/P8 and P30 Accessory Proteins in HTLV-1b, d and f Genotypes.

Emerging microbes &amp; infections
2026

Development of berberine-loaded PEGylated liposomes: in-vitro and ex-vivo evaluation.

Drug development and industrial pharmacy
2026

Which Radiology Artificial Intelligence Should We Choose? Predicting Value Before Deployment.

AJR. American journal of roentgenology
2026

Alert Burden and Multivendor Interactions: Missing Dimensions in Radiology Artificial Intelligence Predeployment Evaluation.

AJR. American journal of roentgenology
2026

Breast MRI in Patients With Active Implanted Metallic Devices: How We Do It.

AJR. American journal of roentgenology
2026

Building Financial Wisdom for Physicians-Career Pivots, an AJR Podcast Series (Episode 9).

AJR. American journal of roentgenology
2026

Catheter-Directed Sclerotherapy Versus Ovarian Cystectomy for Unilateral Ovarian Endometrioma: A Pilot Randomized Controlled Trial.

AJR. American journal of roentgenology
2026

Current Challenges Indeed: Let Us Not Forget Breast Quality Metrics.

AJR. American journal of roentgenology
2026

Balancing Therapeutic Efficacy and Ovarian Preservation in Minimally Invasive Treatment of Endometrioma.

AJR. American journal of roentgenology
2026

Success of First Intubation Attempt in Patients With History of Cervical Spine Fusion: A Retrospective Comparison Study.

Journal of neurosurgical anesthesiology
2026

Hydroxyurea reduces hyper-adhesion measured by a VLA-4 targeting PET tracer in sickle transgenic Townes mice.

Blood advances
2026

A Self-administered Preoperative Visual Paired Comparison Task Is Associated With Postanesthesia Care Unit Delirium.

Journal of neurosurgical anesthesiology
2026

Radionuclide lung scintigraphy in the evaluation of suspected acute and chronic pulmonary embolism: methods, interpretation, and lexicon. A basic user guide for the clinician.

The quarterly journal of nuclear medicine and molecular imaging : official publication of the Italian Association of Nuclear Medicine (AIMN) [and] the International Association of Radiopharmacology (IAR), [and] Section of the Society of...
2026

First genetic confirmation of the smooth hammerhead shark (Sphyrna zygaena, Linnaeus, 1758) in French Polynesian waters.

Journal of fish biology
2026

Deep neurotherapeutic strategy for ischemic stroke via focused ultrasound-enhanced delivery of curcumin-loaded antioxidant nanoliposomes.

Biomaterials science
2026

First-line immunochemotherapy for indolent lymphoma does not affect muscle volume: a post hoc analysis of 472 patients in long-term remissions from the GALLIUM study.

Leukemia &amp; lymphoma
2026

Development of the left-handedness stigmatization scale for the Middle East and North Africa region (LHSS-MENA): expert validity ratio, exploratory factor and confirmatory factor analyses.

Laterality
2026

Engaging Gut-to-Brain Signalling to Treat Alcohol Use Disorder.

Addiction biology
2026

Aspiration-induced lung injury in acute drug and ethanol poisoning: incidence, risk factors, and clinical predictors.

Clinical toxicology (Philadelphia, Pa.)
2026

Tube-shaped g-C3N4 for enhanced piezocatalytic H2 evolution.

Chemical communications (Cambridge, England)
2026

Structure-activity relationship of neplanocin A analogues for the identification of novel anti-HBV leads.

Organic &amp; biomolecular chemistry
2026

Real-world experience with Tabelecleucel within and beyond the approval label.

Blood advances
2026

NGS-based measurable residual disease in long-term progression-free CLL survivors following FCR therapy.

Blood advances
2026

Changes in size-at-age of juvenile Atlantic salmon cohorts over the past 50 years and linkages to environmental factors.

Journal of fish biology
2026

Effectiveness of combined cognitive and exercise training versus single exercise training on cognition in people with Parkinson's disease: a systematic review and meta-analysis of randomized controlled trials.

Aging &amp; mental health
2026

A low-cost automated platform for fast and accurate pH control via physics-informed active learning.

Physical chemistry chemical physics : PCCP
2026

A characterisation of one year of enhanced enquiry follow-up from a United Kingdom poison centre.

Clinical toxicology (Philadelphia, Pa.)
2025

Association of systemic lupus erythematosus, Niemann-Pick disease type B, and probable granulomatosis with polyangiitis: A case report.

La Tunisie medicale
2025

Reconsidering isolated FEV₁ reduction: A case report of early-stage asthma with bronchial hyperreactivity and literature review.

La Tunisie medicale
2025

Malnutrition among Pygmy children under five in Bafwasende (DRC), 2025: A cross-sectional study.

La Tunisie medicale
2025

Psychological effects of coronavirus disease (COVID-19) lockdown on dental students in Tunisia: An online survey.

La Tunisie medicale
2025

Evaluating public private partnerships in the healthcare sector: Scoping review.

La Tunisie medicale
2025

Diagnosis and management of esthesioneuroblastoma.

La Tunisie medicale
2025

Comparative Analysis of Dietary Habits and Nutritional Profiles: Sidi Ali Ben Aoun vs. Grand Tunis.

La Tunisie medicale
2025

Validation of the Arabic Version of Cognitive Complaints in Bipolar Disorder Rating Assessment (COBRA).

La Tunisie medicale
2025

Knowledge of Parents toward their Children's Oral Health: A Survey in Monastir, Tunisia.

La Tunisie medicale
2025

A decade of Non-Small Cell Lung Cancer management: threats and opportunities in resource-limited setting.

La Tunisie medicale
2025

The role of CDX2 immunohistochemical marker in colorectal adenocarcinoma « CDX2 in colorectal adenocarcinoma ».

La Tunisie medicale
2025

[Effects of low-dose botulinum toxin for the treatment of spastic children with cerebral palsy].

La Tunisie medicale
2025

Polyphenols as Epigenetic Modulators of Health: A Holistic Approach to the Therapy and Prevention of Chronic Diseases.

La Tunisie medicale
2025

Dermoscopic assessment of facial photoaging skin among north Morroccans.

La Tunisie medicale
2025

[Synergistic Effect of Noise and Toluene Upon Hematological Alterations, Pulmonary Oxidative Stress and Inflammation].

La Tunisie medicale
2025

Quality of life and Eating disorders in women with Polycystic Ovary Syndrome.

La Tunisie medicale
2025

Clinical symptoms and radiological sequels after SARS-CoV-2 pneumonia: A longitudinal study.

La Tunisie medicale
2025

Tunisia's Heartbeat : Pioneering Isotopic Techniques in Cardiac Viability Among Resource Challenges.

La Tunisie medicale
2025

Accidental exposures to blood among dental health care workers in five Referral Hospitals in Yaoundé, Cameroon.

La Tunisie medicale
2025

A comparative study of medical student performance and satisfaction in an in-person vs online chronic pain certificate program.

La Tunisie medicale
2025

Effectiveness of flipped classroom in medical education: Protocol study of a systematic review.

La Tunisie medicale
2025

Is dabigatran a good alternative to warfarin in patients with atrial fibrillation accompanied by valvular and non-valvular heart diseases? A systematic review and meta-analysis.

La Tunisie medicale
2025

Impact of Artificial Intelligence on academic competence in medical research: A Scoping Review.

La Tunisie medicale
2025

When to Publish? Perspectives of North African researchers in the medical field.

La Tunisie medicale
2025

[Breastfeeding and Work in Tunisia: A Challenge to Overcome].

La Tunisie medicale
2025

Training and Clinical Research Capacity Building in Low- and Middle-Income Countries: Addressing Unmet Needs.

La Tunisie medicale
2025

Abstracts of the 2nd Congress of Clinical Physiology.

La Tunisie medicale
2026

Genetic and physical interactions reveal overlapping and distinct contributions to meiotic double-strand break formation in C. elegans.

eLife
2026

Tailoring Ti Content for Lattice Stable High-Entropy O3-Type Cathode for Sodium-Ion Batteries.

ACS applied materials &amp; interfaces
2026

Positive predictive value of symptoms for early-onset colorectal cancer.

Cancer epidemiology, biomarkers &amp; prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology
2026

Estimation of Tire Wear Particle Emissions from Civilian Vehicles.

Environmental science &amp; technology
2026

Nationwide population-based longitudinal data on magnetic resonance imaging of the prostate and subsequent prostate biopsy results.

Scandinavian journal of urology
2026

"How Long Will This Heart Beat?"-Temporal Experiences of Adults With Congenital Heart Disease: An Interpretative Phenomenological Analysis.

Qualitative health research
2026

Proximity Magnetism in Mn(Bi,Sb)2Te4-(Bi,Sb)2Te3/MnTe Natural Heterostructures.

ACS nano
2026

Association of levonorgestrel-containing emergency contraceptive pills with breast cancer in premenopausal Latin American women: the PRECAMA study.

Cancer epidemiology, biomarkers &amp; prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology
2026

Affinity enhancement of polo-like kinase 1 polo-box domain-binding peptides by N-methylation and lipidation.

Organic &amp; biomolecular chemistry
2026

Structure and function of the synaptonemal complex.

The Journal of cell biology
2026

Oligomeric assemblies of plant biotin carboxylase revealed by cryo-EM and cross-linking.

The Biochemical journal
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Design, Synthesis and Biological Evaluation of N-Phenylphthalimide Protoporphyrinogen IX Oxidase Inhibitor Herbicides.

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Associações

Organizações que acompanham esta doença — pra ter apoio e orientação

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Comunidades

Grupos ativos de quem convive com esta doença aqui no Raras

Ainda não existe comunidade no Raras para Agenesia/hipoplasia femoral isolada

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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. Clinical Features, Treatment Patterns, and Outcomes of Solitary Plasmacytoma in the United States: A National Cancer Database (NCDB) Analysis of Years 2004 to 2020.
    American journal of clinical oncology· 2026· PMID 41879814mais citado
  2. Oral Semaglutide and Change in Cardiovascular Risk Factors in High-Risk Type 2 Diabetes: A Post Hoc Secondary Analysis of the SOUL Randomized Clinical Trial.
    JAMA cardiology· 2026· PMID 41879791mais citado
  3. When Rare Is Common-Rethinking Pediatric Genetic Care.
    JAMA· 2026· PMID 41879789mais citado
  4. Systemic Pharmacological Treatments for Chronic Plaque Psoriasis.
    JAMA dermatology· 2026· PMID 41879788mais citado
  5. Patient and Caregiver Perspectives on Hospital-at-Home in Saudi Arabia.
    JAMA network open· 2026· PMID 41879785mais citado
  6. Trends, lag and characteristics of rare disease drug approval in the USA and China, 1983-2022.
    Orphanet J Rare Dis· 2025· PMID 41430297recente
  7. Healthcare provider recognition of pregnancy related risks and management considerations in patients with tuberous sclerosis complex.
    Orphanet J Rare Dis· 2024· PMID 38166979recente
  8. Identification of two novel SALL1 mutations in chinese families with townes-brocks syndrome and literature review.
    Orphanet J Rare Dis· 2023· PMID 37644569recente
  9. Effects of miglustat therapy on neurological disorder and survival in early-infantile Niemann-Pick disease type C: a national French retrospective study.
    Orphanet J Rare Dis· 2023· PMID 37480097recente
  10. Congenital anomalies in neurofibromatosis 1: a retrospective register-based total population study.
    Orphanet J Rare Dis· 2018· PMID 29335026recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:1987(Orphanet)
  2. MONDO:0016032(MONDO)
  3. GARD:1503(GARD (NIH))
  4. Busca completa no PubMed(PubMed)
  5. Q55785887(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

Agenesia/hipoplasia femoral isolada
Compêndio · Raras BR

Agenesia/hipoplasia femoral isolada

ORPHA:1987 · MONDO:0016032
Prevalência
1-9 / 100 000
CID-10
Q72.4 · Defeito por redução longitudinal da tíbia
CID-11
Início
Antenatal, Neonatal
Prevalência
1.6 (Worldwide)
UMLS
C0345375
Wikidata
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