Disostose patelar hereditária rara caracterizada por hipoplasia ou aplasia ungueal, patelas aplásicas ou hipoplásicas, displasia do cotovelo e presença de cornos ilíacos, bem como anomalias renais e oculares.
Introdução
O que você precisa saber de cara
Disostose patelar hereditária rara caracterizada por hipoplasia ou aplasia ungueal, patelas aplásicas ou hipoplásicas, displasia do cotovelo e presença de cornos ilíacos, bem como anomalias renais e oculares.
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
+ 39 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 99 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
Genes associados
1 gene identificado com associação a esta condição. Padrão de herança: Autosomal dominant.
Transcription factor involved in the regulation of podocyte-expressed genes (PubMed:24042019, PubMed:28059119). Essential for the specification of dorsal limb fate at both the zeugopodal and autopodal levels
Nucleus
Nail-patella syndrome
Disease that cause abnormal skeletal patterning and renal dysplasia.
Variantes genéticas (ClinVar)
222 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 302 variantes classificadas pelo ClinVar.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
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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
Ensaios em destaque
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1 pesquisa recrutando participantes. Converse com seu médico sobre a possibilidade de participar.
Outros ensaios clínicos
2 ensaios clínicos encontrados, 1 ativos.
Publicações mais relevantes
Non-coding genome in nail-patella syndrome: Genetic diagnosis as a guide for personalized follow-up.
Limb malformations are paradigmatic of altered gene regulation in human disease. Nail-Patella Syndrome (NPS) is a rare condition characterized mainly by skeletal defects, glomerulonephritis and glaucoma, with variable expressivity. NPS is caused by the haploinsufficiency or loss-of-function of LMX1B, which encodes a transcription factor involved in limb dorsalization, in the renal glomerular filtration barrier and the anterior segment of the eye. The dorsal expression of LMX1B in the developing limbs is under the control of LMX1B autoregulatory modules (LARMs), which are non-coding cis-regulatory elements (CREs) with a limb-specific enhancer activity. Here, we describe the regulatory landscape and report regulatory anomalies at the LMX1B locus in four families, including the deletion of a CRE, two structural variations disrupting the CRE-promoter interaction, and a 5'UTR variant causing an upstream open reading frame (ORF). Molecular mechanisms involving the non-coding genome can have a tissue-specific impact on gene expression, resulting in incomplete forms of the syndrome, and sometimes modifying its classical mode of inheritance. While approximately 95% of individuals with NPS carry pathogenic variants in the coding regions of LMX1B, non-coding alterations explain the remaining cases. This work highlights the importance of genomic diagnosis (gene ORF versus CRE alteration) for precision medicine and genetic counselling in rare diseases.
Orthopedic manifestations and management of nail-patella syndrome: a narrative review.
Nail-patella syndrome (NPS) is a rare autosomal dominant disorder characterized by skeletal and renal abnormalities. Diagnosis is primarily clinical, based on four main features: nail dysplasia, patellar and elbow abnormalities, and the presence of iliac horns. NPS affects approximately 1 in 50,000 individuals. Its presentation is highly heterogeneous, even within families, which may delay recognition. Pathogenic variants have been identified in the LMX1B gene located on chromosome 9q34. Although best known for its orthopedic manifestations, NPS may also involve other systems, notably the kidneys and eyes, leading to nephropathy or glaucoma that can progress to severe morbidity. Clinical features may be apparent from birth but will evolve over the life course, thus highlighting the need for long-term monitoring. Management requires a multidisciplinary approach, with orthopedics playing a central role. Surgical decisions, particularly for lower-limb pathology, is individualized and guided by symptom burden and functional impairment. This narrative review summarizes the current literature on NPS, including its epidemiology, etiopathogenesis, clinical manifestations, and natural history. It reviews diagnostic challenges based on clinical and radiologic features. Finally, it critically appraises reported surgical management strategies, with particular emphasis on knee pathology and associated complications, with aims to guide current clinicians.
Bilateral Clubfoot in Nail-Patella Syndrome: A Rare Syndromic Case Successfully Treated with the Ponseti Method.
Nail-patella syndrome (NPS) is a rare autosomal dominant disorder characterized by nail dysplasia, hypoplastic or absent patellae, elbow anomalies, and iliac horns. Its association with congenital talipes equinovarus, or clubfoot, is extremely uncommon and rarely documented. We describe a 1.5-year-old male child, born of a 2° consanguineous marriage, who presented with bilateral clubfoot and complete absence of fingernails. Great toenails were absent bilaterally, whereas the remaining toenails were preserved. The patellae were non-palpable clinically, and ultrasound confirmed the absence of ossification centers bilaterally. Radiographs revealed bilateral iliac horns. Ponseti casting was initiated at 2 months of age, and full correction was achieved after five casts, followed by bilateral percutaneous Achilles tenotomy. At 6-month follow-up, the patient exhibited plantigrade, pain-free feet with good dorsiflexion and no recurrence. NPS can occasionally be associated with flexible clubfoot, which may respond well to conservative management. The Ponseti method, when initiated early, remains an effective option in such rare syndromic presentations.
Nail Patella Syndrome Diagnosed in a Proband With Renal Failure Through Skeletal and Nail Deformities in Her Offspring: A Case Report of a Novel De Novo Genetic Defect in the LMX1B Gene.
Nail-patella syndrome (NPS) is an autosomal dominant genetic condition characterised by dysplastic nails, skeletal deformities and potential kidney involvement. It is caused by mutations in the LMX1B gene. In this case, we report a proband and her son, both affected by NPS. The proband presented with kidney failure and exhibited classical NPS deformities that had gone undiagnosed previously. As her son also had similar skeletal deformities, genetic testing for NPS was done, which revealed a novel missense genetic defect in the LMX1B gene. Interestingly, neither the parents nor siblings of the proband showed symptoms of NPS, and genetic analysis of the parents did not show the same genetic variant, thus implying a de novo genetic defect in the proband. This case highlights the importance of genetic testing and early detection in diagnosing and managing NPS.
Horns, nails, and leaky kidneys: A rare case of congenital nephrotic syndrome.
Nail-patella syndrome (NPS) is an uncommon autosomal dominant condition marked by nail dysplasia, skeletal abnormalities, and variable renal manifestations, resulting from mutations in the LMX1B gene. We report a rare case of a 23-year-old male presenting with nephrotic-range proteinuria, characteristic skeletal manifestations of NPS, and a family history of renal failure. Genetic testing identified a previously unreported heterozygous missense variant in the homeodomain of LMX1B (c.791A>C; p.Gln264Pro), supporting its pathogenicity. The absence of patellar hypoplasia in our patient highlights the phenotypic variability of NPS. This case reinforces the importance of detailed physical examination and targeted genetic testing in diagnosing nephrotic syndromes.
Publicações recentes
Case report: dual pathology of LMX1B-associated nephropathy and iga nephropathy in a middle-aged woman.
From dystrophic nails to patellar hypoplasia: a closer look at nail-patella syndrome.
Bilateral Clubfoot in Nail-Patella Syndrome: A Rare Syndromic Case Successfully Treated with the Ponseti Method.
Nail Patella Syndrome Diagnosed in a Proband With Renal Failure Through Skeletal and Nail Deformities in Her Offspring: A Case Report of a Novel De Novo Genetic Defect in the LMX1B Gene.
Horns, nails, and leaky kidneys: A rare case of congenital nephrotic syndrome.
📚 EuropePMC368 artigos no totalmostrando 137
Bilateral Clubfoot in Nail-Patella Syndrome: A Rare Syndromic Case Successfully Treated with the Ponseti Method.
Journal of orthopaedic case reportsNail Patella Syndrome Diagnosed in a Proband With Renal Failure Through Skeletal and Nail Deformities in Her Offspring: A Case Report of a Novel De Novo Genetic Defect in the LMX1B Gene.
Nephrology (Carlton, Vic.)Horns, nails, and leaky kidneys: A rare case of congenital nephrotic syndrome.
Clinical nephrology. Case studiesNon-coding genome in nail-patella syndrome: Genetic diagnosis as a guide for personalized follow-up.
European journal of human genetics : EJHGOrthopedic manifestations and management of nail-patella syndrome: a narrative review.
Frontiers in pediatricsA case of concurrent Alport syndrome and Nail-patella syndrome posing diagnostic challenge without genetic testing.
BMC nephrologyClinicopathological characteristics and cyclosporine-responsive proteinuria in nail-patella syndrome with a novel LMX1B mutation.
Pediatric nephrology (Berlin, Germany)ULTRASONOGRAPHY OF THE CARTILAGINOUS PATELLA IN PEDIATRIC PATIENTS: A CASE SERIES.
Acta ortopedica brasileiraAbnormal kinematics of the distal radioulnar joint due to flat bone dysplasia in nail-patella syndrome: a 3D evaluation with dynamic radiostereometry.
BMJ case reportsCongenital Absence of Bilateral Patella in an Active Military Personnel Case Report.
Journal of orthopaedic case reportsUncommon Factors Leading to Nephrotic Syndrome.
BiomedicinesCharacterisation of lmx1b paralogues in zebrafish reveals divergent roles in skeletal, kidney and muscle development.
Biology openLessons learned from a muscle study in nail-patella syndrome.
Orphanet journal of rare diseasesInflammatory back pain associated with nail-patella syndrome: A case report.
MedicineThe First Observation and Diagnosis of Nail-Patella Syndrome Using LV-SEM: GBM Abnormalities Mimicking Alport Syndrome.
Nephrology (Carlton, Vic.)Identification of a novel missense variant in the LMX1B gene associated with nail-patella syndrome in a Chinese family.
Frontiers in geneticsSplit fingernails, underdeveloped thumbnails, and triangular lunulae.
JAAD case reportsProliferative retinopathy in nail-patella syndrome.
American journal of ophthalmology case reportsTriangular Lunulae in Papillon-Lefèvre Syndrome: A Case Report.
Clinical case reportsIndirect Hexapod Frame-assisted Reduction of Chronic Radial Head Dislocations in Children: 20-year Experience and Technical Tips.
Strategies in trauma and limb reconstructionNail-patella Syndrome and Bilateral Nephrolithiasis: Rare Case Study of a 17-year-old Israeli Male.
The Israel Medical Association journal : IMAJA novel variation in the LMX1B gene with nail-patella syndrome.
Pathology, research and practiceManagement of a Meniscus Tear in a Patient With Nail-Patella Syndrome: A Case Report.
CureusNovel LMX1B variants in nail-patella syndrome.
Hong Kong medical journal = Xianggang yi xue za zhiLMX1B haploinsufficiency due to variants in the 5'UTR as a cause of Nail-Patella syndrome.
NPJ genomic medicineThe role of persistent right umbilical vein in the diagnosis of fetal genetic syndromes.
The journal of obstetrics and gynaecology researchEvidence for therapeutic use of cannabidiol for nail-patella syndrome-induced pain in a real-world pilot study.
Scientific reportsRadiological manifestations of nail-patella syndrome in a 56-year-old female: A case report.
Radiology case reportsA Modified 4-in-1 Stanisavljevic Procedure for Treating Obligatory or Congenital Patellar Dislocations in Children: A Surgical Technique.
HSS journal : the musculoskeletal journal of Hospital for Special SurgeryOverlooked nail-patella syndrome: Proteinuria identified during regular health check-ups at 3 years of age.
Pediatrics international : official journal of the Japan Pediatric SocietyA Family With Nail-Patella Syndrome Caused by a Germline Mosaic Deletion of LMX1B.
Annals of laboratory medicine[Translated article] Congenital and Hereditary Nail Disease.
Actas dermo-sifiliograficasCongenital nail abnormalities.
Hand surgery & rehabilitationST-segment elevation myocardial infarction in Nail-Patella syndrome with anomalous coronary anatomy and aneurysms: a case report.
European heart journal. Case reportsExome sequencing of 1190 non-syndromic clubfoot cases reveals HOXD12 as a novel disease gene.
Journal of medical geneticsMultidisciplinary approach in diagnosis and treatment of Fong disease.
Journal of surgical case reportsNail-patella syndrome with nephropathy in a de novo LMX1B mutation: triangular lunula of the thumb and lack of finger creases as clues.
Pediatric nephrology (Berlin, Germany)Case report: A novel R246L mutation in the LMX1B homeodomain causes isolated nephropathy in a large Chinese family.
MedicineA deletion variant in LMX1B causing nail-patella syndrome in Japanese twins.
Human genome variationThe first presentation of a case of nail-patella syndrome newly diagnosed at the onset of rheumatoid arthritis: a case report.
BMC musculoskeletal disordersThe limb dorsoventral axis: Lmx1b's role in development, pathology, evolution, and regeneration.
Developmental dynamics : an official publication of the American Association of AnatomistsDilated Cardiomyopathy and Nail-Patella Syndrome: A Case Report.
Cureus"Knee-Ding" a Diagnosis: A Case of Nail Patella Syndrome.
CureusCongenital Absence of Patella: A Case Report.
CureusNail-Patella Syndrome: A Case Series From Northern India.
CureusIdentification of a novel LMX1B nonsense variant associated with congenital talipes equinovarus by prenatal exome sequencing: A case report.
Molecular genetics & genomic medicineDe novo enhancer deletion of LMX1B produces a mild nail-patella clinical phenotype.
Clinical geneticsTotal Knee Arthroplasty Using Computer-Assisted Navigation in a Patient with Nail-Patella Syndrome: A Case Report.
JBJS case connectorOnychodystrophy with Multiple Epiphyseal Dysplasia: Literature Review.
Skin appendage disordersTotal Knee Arthroplasty Without Reduction of the Patella for Genu Valgum With Permanent Dislocation of the Patella: A Case of Nail Patella Syndrome.
Arthroplasty todayNail-Patella Syndrome and Glaucoma: A Case Report and Review of the Literature.
Case reports in ophthalmologySimultaneous kidney and pancreas transplantation in a patient with nail-patella syndrome and insulin-dependent diabetes.
Pediatric nephrology (Berlin, Germany)Lamellar Bodies in Podocytes Associated With Compound Heterozygous Mutations for Niemann Pick Type C1 Mimicking Fabry Disease, a Case Report.
Canadian journal of kidney health and diseaseCase Report: Inversion of LMX1B - A Novel Cause of Nail-Patella Syndrome in a Swedish Family and a Longtime Follow-Up.
Frontiers in endocrinologyA novel LMX1B mutation: nail-patella syndrome manifesting with isolated nail disorders.
International journal of dermatologyNail-Patella Syndrome: Optical Coherence Tomography Angiography Findings.
Case reports in ophthalmologyTotal Knee Arthroplasty for Osteoarthritis in a Patient with Nail Patella Syndrome - A Case Report.
International medical case reports journalRetrospective Diagnosis of Nail-patella Syndrome.
Indian journal of nephrologyA case of nail-patella syndrome with osteochondral lesion of the lateral femoral condyle accompanied with anomalies of anterior horns of the menisci and lateral femoral condyle.
Journal of orthopaedic science : official journal of the Japanese Orthopaedic AssociationIdentification of limb-specific Lmx1b auto-regulatory modules with Nail-patella syndrome pathogenicity.
Nature communicationsA Novel LMX1B Variant Identified in a Patient Presenting with Severe Renal Involvement and Thin Glomerular Basement Membrane.
NephronTotal Shoulder Arthroplasty in a Patient with Nail-Patella Syndrome: A Case Report.
JBJS case connectorCase Report: Corneal Leucoma as a Novel Clinical Presentation of Nail-Patella Syndrome in a 5-Year-Old Girl.
Frontiers in pediatricsLMX1B-associated nephropathy that showed myelin figures on electron microscopy.
CEN case reportsRobotic-Assisted Lateral Unicompartmental Knee Arthroplasty in a Patient With Nail-Patella Syndrome.
Arthroplasty todayPeters Anomaly in Nail-Patella Syndrome: A Case Report and Clinico-Genetic Correlation.
CorneaA Novel Mutation in LMX1B (p.Pro219Ala) Causes Focal Segmental Glomerulosclerosis with Alport Syndrome-like Phenotype.
Internal medicine (Tokyo, Japan)Diagnosing nail-patella syndrome: can it be so simple?
BMJ case reportsA rare disorder causing chronic joint pain in an adolescent.
JAAPA : official journal of the American Academy of Physician Assistants[Prenatal diagnosis and pedigree analysis of a case of Nail-patella syndrome].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical geneticsFrom Skin to Kidneys: Cutaneous Clues of Renal Disease in Children.
Dermatology practical & conceptualTelmisartan alleviates collagen type III glomerulopathy: A case report with literature review.
Experimental and therapeutic medicineNail-Patella syndrome with early onset end-stage renal disease in a child with a novel heterozygous missense mutation in the LMX1B homeodomain: A case report.
Biomedical reportsPlateau iris syndrome and angle-closure glaucoma in a patient with nail-patella syndrome.
American journal of ophthalmology case reportsParoxysmal Cranial Dyskinesia and Nail-Patella Syndrome Caused by a Novel Variant in the LMX1B Gene.
Movement disorders : official journal of the Movement Disorder SocietyUnicompartmental Knee Arthroplasty in a Patient with Nail-Patella Syndrome: A Case Report.
JBJS case connectorNail-patella syndrome: "nailing" the diagnosis in three generations.
Dermatology online journalA novel mutation in LMX1B gene in a newborn with nail-patella syndrome: Clinical and dermoscopic findings.
Pediatric dermatologyNail-patella-like renal disease masquerading as Fabry disease on kidney biopsy: a case report.
BMC nephrologyFocal Segmental Glomerulosclerosis and Scheduled Pretransplant Plasmapheresis: A Timely Diagnosis of Nail-Patella Syndrome Avoided More Futile Immunosuppression.
Case reports in nephrology[Syndromic intellectual disability disorder caused by variants in TELO2 or You-Hoover-Fong syndrome].
Anales de pediatriaArthrogryposis as a presenting feature of nail-patella syndrome: a lesser-known feature and the perils of negative whole-genome sequencing.
Clinical dysmorphologyVisual Diagnosis: Dysplastic Nails and Elbows in a 15-year-old Boy.
Pediatrics in reviewClinical and genetic characterization of nephropathy in patients with nail-patella syndrome.
European journal of human genetics : EJHGMyelin bodies in LMX1B-associated nephropathy: potential for misdiagnosis.
Pediatric nephrology (Berlin, Germany)An Exome Sequencing Study of 10 Families with IgA Nephropathy.
NephronA Double Case of Nail-Patella Syndrome in the Same Family: The Importance of Nail Changes as Diagnostic Clues for Renal Involvement.
Skin appendage disordersInternal Carotid Artery Aplasia in a Patient With Nail-Patella Syndrome.
Vascular and endovascular surgeryNail-Patella Syndrome: A Classic Case.
Dermatology practical & conceptualElectron Microscopic and Immunohistochemical Findings of the Epidermal Basement Membrane in Two Families with Nail-patella Syndrome.
Acta dermato-venereologicaSurgical Treatment of Congenital and Obligatory Dislocation of the Patella in Children.
Journal of pediatric orthopedicsDifficulties adapting to Nail-Patella syndrome: A qualitative study of patients' perspectives.
Journal of genetic counselingA long noncoding RNA cluster-based genomic locus maintains proper development and visual function.
Nucleic acids researchA novel small deletion of LMX1B in a large Chinese family with nail-patella syndrome.
BMC medical geneticsNovel missense mutation affecting the LIM-A domain of LMX1B in a family with Nail-Patella syndrome.
Intractable & rare diseases researchBrown tumor diagnosed three years after parathyroidectomy in a patient with nail-patella syndrome: A case report.
Bone reportsTotal knee arthroplasty in a patient with nail-patella syndrome (NPS).
The KneeDermatology-Related Uses of Medical Cannabis Promoted by Dispensaries in Canada, Europe, and the United States.
Journal of cutaneous medicine and surgerySchizophrenia and Nail Patella Syndrome: The Dopamine Connection.
The Israel Medical Association journal : IMAJCould the interaction between LMX1B and PAX2 influence the severity of renal symptoms?
European journal of human genetics : EJHGShort stature and hypothyroidism in a child with Nail-Patella Syndrome. A case report.
Revista chilena de pediatriaProspective Cardiovascular Genetics Evaluation in Spontaneous Coronary Artery Dissection.
Circulation. Genomic and precision medicineNail-patella syndrome: clinical clues for making the diagnosis.
CutisNail-Patella Syndrome: A Rare Cause of Nephrotic Syndrome in Pregnancy.
Indian journal of nephrologyBasement Membrane Defects in Genetic Kidney Diseases.
Frontiers in pediatricsGenetics of patella hypoplasia/agenesis.
Clinical geneticsA familial case of nail patella syndrome with a heterozygous in-frame indel mutation in the LIM domain of LMX1B.
Journal of dermatological scienceLMX1B-Associated Nephropathy With Type III Collagen Deposition in the Glomerular and Tubular Basement Membranes.
American journal of kidney diseases : the official journal of the National Kidney FoundationPrenatal diagnosis of nail patella syndrome: A case report.
The Indian journal of radiology & imagingThe Risks and Benefits of Cannabis in the Dermatology Clinic.
Journal of cutaneous medicine and surgeryAJKD Atlas of Renal Pathology: Nail-Patella Syndrome-Associated Nephropathy.
American journal of kidney diseases : the official journal of the National Kidney FoundationDo you know this syndrome? Nail patela syndrome: a pathognomonic dermatologic finding.
Anais brasileiros de dermatologiaHips Don't Lie: Fong Disease.
Journal of the Belgian Society of RadiologyMutation of WIF1: a potential novel cause of a Nail-Patella-like disorder.
Genetics in medicine : official journal of the American College of Medical GeneticsSteroid-resistant nephrotic syndrome as the initial presentation of nail-patella syndrome: a case of a de novo LMX1B mutation.
BMC nephrology[Nail-patella syndrome and glaucoma: A case report].
Journal francais d'ophtalmologieDysregulation of WTI (-KTS) is Associated with the Kidney-Specific Effects of the LMX1B R246Q Mutation.
Scientific reportsSpectrum of LMX1B mutations: from nail-patella syndrome to isolated nephropathy.
Pediatric nephrology (Berlin, Germany)Treatment of patellar instability in a case of hereditary onycho-osteodysplasia (nail-patella syndrome) with medial patellofemoral ligament reconstruction: A case report.
Experimental and therapeutic medicineNail-patella-syndrome in a young patient followed up over 10 years: relevance of the sagittal trochlear septum for patellofemoral pathology.
SICOT-JCollagenofibrotic glomerulopathy.
Kidney internationalNail-patella syndrome: report of 11 pediatric cases.
Journal of the European Academy of Dermatology and Venereology : JEADVRadiological characteristics of the knee joint in nail patella syndrome.
The bone & joint journalType III collagen disorders: A case report and review of literature.
Indian journal of pathology & microbiologyManagement of patellar problems in skeletally mature patients with nail-patella syndrome.
Knee surgery, sports traumatology, arthroscopy : official journal of the ESSKA50 Years Ago in The Journal of Pediatrics: The Nail-Patella Syndrome: Clinical and Genetic Aspects of 5 Kindreds with 38 Affected Family Members.
The Journal of pediatricsThe spectrum of nephrocutaneous diseases and associations: Genetic causes of nephrocutaneous disease.
Journal of the American Academy of DermatologyThe nail points to the diagnosis. Fong disease or hereditary osteo-onychodysplasia.
Hong Kong medical journal = Xianggang yi xue za zhiNail patella syndrome: Knee symptoms and surgical outcomes. A questionnaire-based survey.
Orthopaedics & traumatology, surgery & research : OTSRClinical and histological findings of autosomal dominant renal-limited disease with LMX1B mutation.
Nephrology (Carlton, Vic.)Radiographic findings in the nail-patella syndrome.
Proceedings (Baylor University. Medical Center)Median nail damage in nail-patella syndrome associated with triangular lunulae.
The British journal of dermatologyNail-Patella Syndrome: A Report of a Saudi Arab Family With an Autosomal Recessive Inheritance.
Journal of cutaneous medicine and surgeryNail-Patella Syndrome: clinical and molecular data in 55 families raising the hypothesis of a genetic heterogeneity.
European journal of human genetics : EJHGInterfering parameters in the determination of urinary globotriaosylceramide (Gb3) in patients with chronic kidney disease.
Journal of nephrologyTips to diagnose uncommon nail disorders.
Dermatologic clinicsA novel LMX1B mutation in a family with end-stage renal disease of 'unknown cause'.
Clinical kidney journalAssociações
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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.
- Non-coding genome in nail-patella syndrome: Genetic diagnosis as a guide for personalized follow-up.
- Orthopedic manifestations and management of nail-patella syndrome: a narrative review.
- Bilateral Clubfoot in Nail-Patella Syndrome: A Rare Syndromic Case Successfully Treated with the Ponseti Method.
- Nail Patella Syndrome Diagnosed in a Proband With Renal Failure Through Skeletal and Nail Deformities in Her Offspring: A Case Report of a Novel De Novo Genetic Defect in the LMX1B Gene.
- Horns, nails, and leaky kidneys: A rare case of congenital nephrotic syndrome.
- Case report: dual pathology of LMX1B-associated nephropathy and iga nephropathy in a middle-aged woman.
- From dystrophic nails to patellar hypoplasia: a closer look at nail-patella syndrome.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:2614(Orphanet)
- OMIM OMIM:161200(OMIM)
- MONDO:0008061(MONDO)
- GARD:7160(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Artigo Wikipedia(Wikipedia)
- Q2035109(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
