Raras
Buscar doenças, sintomas, genes...
Síndrome unha-rótula
ORPHA:2614CID-10 · Q87.2CID-11 · LD24.J0OMIM 161200DOENÇA RARA

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.

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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.

Pesquisas ativas
1 ensaio
2 total registrados no ClinicalTrials.gov
Publicações científicas
498 artigos
Último publicado: 2026 Apr 16

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
2.2
United Kingdom
Início
Antenatal
+ childhood, infancy, neonatal
🏥
SUS: Cobertura mínimaScore: 15%
CID-10: Q87.2
🇧🇷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
Você se identifica com essa condição?
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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

Partes do corpo afetadas

🦴
Ossos e articulações
20 sintomas
🫘
Rins
8 sintomas
😀
Face
7 sintomas
👁️
Olhos
7 sintomas
💪
Músculos
7 sintomas
🧬
Pele e cabelo
4 sintomas

+ 39 sintomas em outras categorias

Características mais comuns

96%prev.
Pregas interfalângicas distais ausentes
Frequência: 114/119
90%prev.
Morfologia anormal do dígito
Muito frequente (99-80%)
90%prev.
Morfologia anormal da unha
Muito frequente (99-80%)
76%prev.
Hipoplasia patelar
Ocasional (29-5%)
70%prev.
Extensão limitada do cotovelo
Ocasional (29-5%)
68%prev.
Cornos ilíacos
Frequente (79-30%)
99sintomas
Muito frequente (3)
Frequente (18)
Ocasional (49)
Muito raro (3)
Sem dados (26)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 99 características clínicas mais associadas, ordenadas por frequência.

Pregas interfalângicas distais ausentesAbsent distal interphalangeal creases
Frequência: 114/11996%
Morfologia anormal do dígitoAbnormal digit morphology
Muito frequente (99-80%)90%
Morfologia anormal da unhaAbnormality of the nail
Muito frequente (99-80%)90%
Hipoplasia patelarPatellar hypoplasia
Ocasional (29-5%)76%
Extensão limitada do cotoveloLimited elbow extension
Ocasional (29-5%)70%

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Total histórico498PubMed
Últimos 10 anos145publicações
Pico202519 papers
Linha do tempo
2026Hoje · 2026🧪 1997Primeiro ensaio clínico📈 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

Genes associados

1 gene identificado com associação a esta condição. Padrão de herança: Autosomal dominant.

LMX1BLIM homeobox transcription factor 1-betaDisease-causing germline mutation(s) inAltamente restrito
FUNÇÃO

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

LOCALIZAÇÃO

Nucleus

MECANISMO DE DOENÇA

Nail-patella syndrome

Disease that cause abnormal skeletal patterning and renal dysplasia.

EXPRESSÃO TECIDUAL(Tecido-específico)
Mama
5.2 TPM
Skin Sun Exposed Lower leg
3.4 TPM
Rim - Córtex
3.2 TPM
Testículo
3.0 TPM
Skin Not Sun Exposed Suprapubic
2.7 TPM
OUTRAS DOENÇAS (3)
nail-patella-like renal diseasenail-patella syndrome9q33.3q34.11 microdeletion syndrome
HGNC:6654UniProt:O60663

Variantes genéticas (ClinVar)

222 variantes patogênicas registradas no ClinVar.

🧬 LMX1B: NM_001174147.2(LMX1B):c.419G>C (p.Cys140Ser) ()
🧬 LMX1B: NM_001174147.2(LMX1B):c.144dup (p.Asp49fs) ()
🧬 LMX1B: NM_001174147.2(LMX1B):c.952C>T (p.Gln318Ter) ()
🧬 LMX1B: NM_001174147.2(LMX1B):c.927C>G (p.Tyr309Ter) ()
🧬 LMX1B: NM_001174147.2(LMX1B):c.790C>T (p.Gln264Ter) ()
Ver todas no ClinVar

Classificação de variantes (ClinVar)

Distribuição de 302 variantes classificadas pelo ClinVar.

121
181
Patogênica (40.1%)
VUS (59.9%)
VARIANTES MAIS SIGNIFICATIVAS
LMX1B: NM_001174147.2(LMX1B):c.432C>A (p.Cys144Ter) [Likely pathogenic]
LMX1B: NM_001174147.2(LMX1B):c.-226G>A [Pathogenic]
LMX1B: NM_001174147.2(LMX1B):c.411C>A (p.His137Gln) [Pathogenic]
LMX1B: NM_001174147.2(LMX1B):c.886+46_886+84del [Likely pathogenic]
LMX1B: NM_001174147.2(LMX1B):c.640A>T (p.Lys214Ter) [Pathogenic]

Diagnóstico

Os sinais que médicos procuram e os exames que confirmam

Carregando...

Tratamento e manejo

Remédios, cuidados de apoio e o que precisa acompanhar

Pipeline de tratamentos
Pipeline regulatório — de medicamentos já aprovados a drogas em pesquisa exploratória.
·Pré-clínico2
Medicamentos catalogadosEnsaios clínicos· 0 medicamentos · 2 ensaios
Carregando informações de tratamento...

Onde tratar no SUS

Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)

🇧🇷 Atendimento SUS — Síndrome unha-rótula

🗺️

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

🟢 Recrutando agora

1 pesquisa recrutando participantes. Converse com seu médico sobre a possibilidade de participar.

Outros ensaios clínicos

2 ensaios clínicos encontrados, 1 ativos.

Distribuição por fase
Ver todos no ClinicalTrials.gov
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Publicações mais relevantes

Timeline de publicações
141 papers (10 anos)
#1

Non-coding genome in nail-patella syndrome: Genetic diagnosis as a guide for personalized follow-up.

European journal of human genetics : EJHG2026 Mar 03

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.

#2

Orthopedic manifestations and management of nail-patella syndrome: a narrative review.

Frontiers in pediatrics2026

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.

#3

Bilateral Clubfoot in Nail-Patella Syndrome: A Rare Syndromic Case Successfully Treated with the Ponseti Method.

Journal of orthopaedic case reports2026 Mar

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.

#4

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.

Nephrology (Carlton, Vic.)2026 Mar

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.

#5

Horns, nails, and leaky kidneys: A rare case of congenital nephrotic syndrome.

Clinical nephrology. Case studies2026

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

Ver todas no PubMed

📚 EuropePMC368 artigos no totalmostrando 137

2026

Bilateral Clubfoot in Nail-Patella Syndrome: A Rare Syndromic Case Successfully Treated with the Ponseti Method.

Journal of orthopaedic case reports
2026

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.

Nephrology (Carlton, Vic.)
2026

Horns, nails, and leaky kidneys: A rare case of congenital nephrotic syndrome.

Clinical nephrology. Case studies
2026

Non-coding genome in nail-patella syndrome: Genetic diagnosis as a guide for personalized follow-up.

European journal of human genetics : EJHG
2026

Orthopedic manifestations and management of nail-patella syndrome: a narrative review.

Frontiers in pediatrics
2025

A case of concurrent Alport syndrome and Nail-patella syndrome posing diagnostic challenge without genetic testing.

BMC nephrology
2026

Clinicopathological characteristics and cyclosporine-responsive proteinuria in nail-patella syndrome with a novel LMX1B mutation.

Pediatric nephrology (Berlin, Germany)
2025

ULTRASONOGRAPHY OF THE CARTILAGINOUS PATELLA IN PEDIATRIC PATIENTS: A CASE SERIES.

Acta ortopedica brasileira
2025

Abnormal kinematics of the distal radioulnar joint due to flat bone dysplasia in nail-patella syndrome: a 3D evaluation with dynamic radiostereometry.

BMJ case reports
2025

Congenital Absence of Bilateral Patella in an Active Military Personnel Case Report.

Journal of orthopaedic case reports
2025

Uncommon Factors Leading to Nephrotic Syndrome.

Biomedicines
2025

Characterisation of lmx1b paralogues in zebrafish reveals divergent roles in skeletal, kidney and muscle development.

Biology open
2025

Lessons learned from a muscle study in nail-patella syndrome.

Orphanet journal of rare diseases
2025

Inflammatory back pain associated with nail-patella syndrome: A case report.

Medicine
2025

The First Observation and Diagnosis of Nail-Patella Syndrome Using LV-SEM: GBM Abnormalities Mimicking Alport Syndrome.

Nephrology (Carlton, Vic.)
2025

Identification of a novel missense variant in the LMX1B gene associated with nail-patella syndrome in a Chinese family.

Frontiers in genetics
2025

Split fingernails, underdeveloped thumbnails, and triangular lunulae.

JAAD case reports
2025

Proliferative retinopathy in nail-patella syndrome.

American journal of ophthalmology case reports
2025

Triangular Lunulae in Papillon-Lefèvre Syndrome: A Case Report.

Clinical case reports
2024

Indirect Hexapod Frame-assisted Reduction of Chronic Radial Head Dislocations in Children: 20-year Experience and Technical Tips.

Strategies in trauma and limb reconstruction
2025

Nail-patella Syndrome and Bilateral Nephrolithiasis: Rare Case Study of a 17-year-old Israeli Male.

The Israel Medical Association journal : IMAJ
2025

A novel variation in the LMX1B gene with nail-patella syndrome.

Pathology, research and practice
2025

Management of a Meniscus Tear in a Patient With Nail-Patella Syndrome: A Case Report.

Cureus
2025

Novel LMX1B variants in nail-patella syndrome.

Hong Kong medical journal = Xianggang yi xue za zhi
2025

LMX1B haploinsufficiency due to variants in the 5'UTR as a cause of Nail-Patella syndrome.

NPJ genomic medicine
2025

The role of persistent right umbilical vein in the diagnosis of fetal genetic syndromes.

The journal of obstetrics and gynaecology research
2024

Evidence for therapeutic use of cannabidiol for nail-patella syndrome-induced pain in a real-world pilot study.

Scientific reports
2024

Radiological manifestations of nail-patella syndrome in a 56-year-old female: A case report.

Radiology case reports
2024

A 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 Surgery
2024

Overlooked nail-patella syndrome: Proteinuria identified during regular health check-ups at 3 years of age.

Pediatrics international : official journal of the Japan Pediatric Society
2024

A Family With Nail-Patella Syndrome Caused by a Germline Mosaic Deletion of LMX1B.

Annals of laboratory medicine
2024

[Translated article] Congenital and Hereditary Nail Disease.

Actas dermo-sifiliograficas
2024

Congenital nail abnormalities.

Hand surgery &amp; rehabilitation
2024

ST-segment elevation myocardial infarction in Nail-Patella syndrome with anomalous coronary anatomy and aneurysms: a case report.

European heart journal. Case reports
2024

Exome sequencing of 1190 non-syndromic clubfoot cases reveals HOXD12 as a novel disease gene.

Journal of medical genetics
2024

Multidisciplinary approach in diagnosis and treatment of Fong disease.

Journal of surgical case reports
2024

Nail-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)
2024

Case report: A novel R246L mutation in the LMX1B homeodomain causes isolated nephropathy in a large Chinese family.

Medicine
2024

A deletion variant in LMX1B causing nail-patella syndrome in Japanese twins.

Human genome variation
2024

The first presentation of a case of nail-patella syndrome newly diagnosed at the onset of rheumatoid arthritis: a case report.

BMC musculoskeletal disorders
2024

The limb dorsoventral axis: Lmx1b's role in development, pathology, evolution, and regeneration.

Developmental dynamics : an official publication of the American Association of Anatomists
2023

Dilated Cardiomyopathy and Nail-Patella Syndrome: A Case Report.

Cureus
2023

"Knee-Ding" a Diagnosis: A Case of Nail Patella Syndrome.

Cureus
2023

Congenital Absence of Patella: A Case Report.

Cureus
2023

Nail-Patella Syndrome: A Case Series From Northern India.

Cureus
2024

Identification of a novel LMX1B nonsense variant associated with congenital talipes equinovarus by prenatal exome sequencing: A case report.

Molecular genetics &amp; genomic medicine
2024

De novo enhancer deletion of LMX1B produces a mild nail-patella clinical phenotype.

Clinical genetics
2023

Total Knee Arthroplasty Using Computer-Assisted Navigation in a Patient with Nail-Patella Syndrome: A Case Report.

JBJS case connector
2023

Onychodystrophy with Multiple Epiphyseal Dysplasia: Literature Review.

Skin appendage disorders
2023

Total Knee Arthroplasty Without Reduction of the Patella for Genu Valgum With Permanent Dislocation of the Patella: A Case of Nail Patella Syndrome.

Arthroplasty today
2022

Nail-Patella Syndrome and Glaucoma: A Case Report and Review of the Literature.

Case reports in ophthalmology
2023

Simultaneous kidney and pancreas transplantation in a patient with nail-patella syndrome and insulin-dependent diabetes.

Pediatric nephrology (Berlin, Germany)
2022

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 disease
2022

Case Report: Inversion of LMX1B - A Novel Cause of Nail-Patella Syndrome in a Swedish Family and a Longtime Follow-Up.

Frontiers in endocrinology
2022

A novel LMX1B mutation: nail-patella syndrome manifesting with isolated nail disorders.

International journal of dermatology
2022

Nail-Patella Syndrome: Optical Coherence Tomography Angiography Findings.

Case reports in ophthalmology
2021

Total Knee Arthroplasty for Osteoarthritis in a Patient with Nail Patella Syndrome - A Case Report.

International medical case reports journal
2021

Retrospective Diagnosis of Nail-patella Syndrome.

Indian journal of nephrology
2023

A 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 Association
2021

Identification of limb-specific Lmx1b auto-regulatory modules with Nail-patella syndrome pathogenicity.

Nature communications
2021

A Novel LMX1B Variant Identified in a Patient Presenting with Severe Renal Involvement and Thin Glomerular Basement Membrane.

Nephron
2021

Total Shoulder Arthroplasty in a Patient with Nail-Patella Syndrome: A Case Report.

JBJS case connector
2021

Case Report: Corneal Leucoma as a Novel Clinical Presentation of Nail-Patella Syndrome in a 5-Year-Old Girl.

Frontiers in pediatrics
2021

LMX1B-associated nephropathy that showed myelin figures on electron microscopy.

CEN case reports
2021

Robotic-Assisted Lateral Unicompartmental Knee Arthroplasty in a Patient With Nail-Patella Syndrome.

Arthroplasty today
2021

Peters Anomaly in Nail-Patella Syndrome: A Case Report and Clinico-Genetic Correlation.

Cornea
2021

A Novel Mutation in LMX1B (p.Pro219Ala) Causes Focal Segmental Glomerulosclerosis with Alport Syndrome-like Phenotype.

Internal medicine (Tokyo, Japan)
2021

Diagnosing nail-patella syndrome: can it be so simple?

BMJ case reports
2021

A rare disorder causing chronic joint pain in an adolescent.

JAAPA : official journal of the American Academy of Physician Assistants
2020

[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 genetics
2020

From Skin to Kidneys: Cutaneous Clues of Renal Disease in Children.

Dermatology practical &amp; conceptual
2020

Telmisartan alleviates collagen type III glomerulopathy: A case report with literature review.

Experimental and therapeutic medicine
2020

Nail-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 reports
2020

Plateau iris syndrome and angle-closure glaucoma in a patient with nail-patella syndrome.

American journal of ophthalmology case reports
2020

Paroxysmal Cranial Dyskinesia and Nail-Patella Syndrome Caused by a Novel Variant in the LMX1B Gene.

Movement disorders : official journal of the Movement Disorder Society
2020

Unicompartmental Knee Arthroplasty in a Patient with Nail-Patella Syndrome: A Case Report.

JBJS case connector
2020

Nail-patella syndrome: "nailing" the diagnosis in three generations.

Dermatology online journal
2020

A novel mutation in LMX1B gene in a newborn with nail-patella syndrome: Clinical and dermoscopic findings.

Pediatric dermatology
2020

Nail-patella-like renal disease masquerading as Fabry disease on kidney biopsy: a case report.

BMC nephrology
2020

Focal Segmental Glomerulosclerosis and Scheduled Pretransplant Plasmapheresis: A Timely Diagnosis of Nail-Patella Syndrome Avoided More Futile Immunosuppression.

Case reports in nephrology
2021

[Syndromic intellectual disability disorder caused by variants in TELO2 or You-Hoover-Fong syndrome].

Anales de pediatria
2020

Arthrogryposis as a presenting feature of nail-patella syndrome: a lesser-known feature and the perils of negative whole-genome sequencing.

Clinical dysmorphology
2020

Visual Diagnosis: Dysplastic Nails and Elbows in a 15-year-old Boy.

Pediatrics in review
2020

Clinical and genetic characterization of nephropathy in patients with nail-patella syndrome.

European journal of human genetics : EJHG
2020

Myelin bodies in LMX1B-associated nephropathy: potential for misdiagnosis.

Pediatric nephrology (Berlin, Germany)
2020

An Exome Sequencing Study of 10 Families with IgA Nephropathy.

Nephron
2019

A Double Case of Nail-Patella Syndrome in the Same Family: The Importance of Nail Changes as Diagnostic Clues for Renal Involvement.

Skin appendage disorders
2020

Internal Carotid Artery Aplasia in a Patient With Nail-Patella Syndrome.

Vascular and endovascular surgery
2019

Nail-Patella Syndrome: A Classic Case.

Dermatology practical &amp; conceptual
2019

Electron Microscopic and Immunohistochemical Findings of the Epidermal Basement Membrane in Two Families with Nail-patella Syndrome.

Acta dermato-venereologica
2019

Surgical Treatment of Congenital and Obligatory Dislocation of the Patella in Children.

Journal of pediatric orthopedics
2019

Difficulties adapting to Nail-Patella syndrome: A qualitative study of patients' perspectives.

Journal of genetic counseling
2019

A long noncoding RNA cluster-based genomic locus maintains proper development and visual function.

Nucleic acids research
2019

A novel small deletion of LMX1B in a large Chinese family with nail-patella syndrome.

BMC medical genetics
2019

Novel missense mutation affecting the LIM-A domain of LMX1B in a family with Nail-Patella syndrome.

Intractable &amp; rare diseases research
2019

Brown tumor diagnosed three years after parathyroidectomy in a patient with nail-patella syndrome: A case report.

Bone reports
2019

Total knee arthroplasty in a patient with nail-patella syndrome (NPS).

The Knee
2019

Dermatology-Related Uses of Medical Cannabis Promoted by Dispensaries in Canada, Europe, and the United States.

Journal of cutaneous medicine and surgery
2018

Schizophrenia and Nail Patella Syndrome: The Dopamine Connection.

The Israel Medical Association journal : IMAJ
2018

Could the interaction between LMX1B and PAX2 influence the severity of renal symptoms?

European journal of human genetics : EJHG
2018

Short stature and hypothyroidism in a child with Nail-Patella Syndrome. A case report.

Revista chilena de pediatria
2018

Prospective Cardiovascular Genetics Evaluation in Spontaneous Coronary Artery Dissection.

Circulation. Genomic and precision medicine
2018

Nail-patella syndrome: clinical clues for making the diagnosis.

Cutis
2018

Nail-Patella Syndrome: A Rare Cause of Nephrotic Syndrome in Pregnancy.

Indian journal of nephrology
2018

Basement Membrane Defects in Genetic Kidney Diseases.

Frontiers in pediatrics
2018

Genetics of patella hypoplasia/agenesis.

Clinical genetics
2018

A familial case of nail patella syndrome with a heterozygous in-frame indel mutation in the LIM domain of LMX1B.

Journal of dermatological science
2018

LMX1B-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 Foundation
2017

Prenatal diagnosis of nail patella syndrome: A case report.

The Indian journal of radiology &amp; imaging
2018

The Risks and Benefits of Cannabis in the Dermatology Clinic.

Journal of cutaneous medicine and surgery
2017

AJKD Atlas of Renal Pathology: Nail-Patella Syndrome-Associated Nephropathy.

American journal of kidney diseases : the official journal of the National Kidney Foundation
2017

Do you know this syndrome? Nail patela syndrome: a pathognomonic dermatologic finding.

Anais brasileiros de dermatologia
2017

Hips Don't Lie: Fong Disease.

Journal of the Belgian Society of Radiology
2017

Mutation of WIF1: a potential novel cause of a Nail-Patella-like disorder.

Genetics in medicine : official journal of the American College of Medical Genetics
2017

Steroid-resistant nephrotic syndrome as the initial presentation of nail-patella syndrome: a case of a de novo LMX1B mutation.

BMC nephrology
2017

[Nail-patella syndrome and glaucoma: A case report].

Journal francais d'ophtalmologie
2017

Dysregulation of WTI (-KTS) is Associated with the Kidney-Specific Effects of the LMX1B R246Q Mutation.

Scientific reports
2017

Spectrum of LMX1B mutations: from nail-patella syndrome to isolated nephropathy.

Pediatric nephrology (Berlin, Germany)
2016

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 medicine
2016

Nail-patella-syndrome in a young patient followed up over 10 years: relevance of the sagittal trochlear septum for patellofemoral pathology.

SICOT-J
2016

Collagenofibrotic glomerulopathy.

Kidney international
2016

Nail-patella syndrome: report of 11 pediatric cases.

Journal of the European Academy of Dermatology and Venereology : JEADV
2016

Radiological characteristics of the knee joint in nail patella syndrome.

The bone &amp; joint journal
2016

Type III collagen disorders: A case report and review of literature.

Indian journal of pathology &amp; microbiology
2017

Management of patellar problems in skeletally mature patients with nail-patella syndrome.

Knee surgery, sports traumatology, arthroscopy : official journal of the ESSKA
2016

50 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 pediatrics
2016

The spectrum of nephrocutaneous diseases and associations: Genetic causes of nephrocutaneous disease.

Journal of the American Academy of Dermatology
2015

The nail points to the diagnosis. Fong disease or hereditary osteo-onychodysplasia.

Hong Kong medical journal = Xianggang yi xue za zhi
2015

Nail patella syndrome: Knee symptoms and surgical outcomes. A questionnaire-based survey.

Orthopaedics &amp; traumatology, surgery &amp; research : OTSR
2016

Clinical and histological findings of autosomal dominant renal-limited disease with LMX1B mutation.

Nephrology (Carlton, Vic.)
2015

Radiographic findings in the nail-patella syndrome.

Proceedings (Baylor University. Medical Center)
2015

Median nail damage in nail-patella syndrome associated with triangular lunulae.

The British journal of dermatology
2015

Nail-Patella Syndrome: A Report of a Saudi Arab Family With an Autosomal Recessive Inheritance.

Journal of cutaneous medicine and surgery
2016

Nail-Patella Syndrome: clinical and molecular data in 55 families raising the hypothesis of a genetic heterogeneity.

European journal of human genetics : EJHG
2015

Interfering parameters in the determination of urinary globotriaosylceramide (Gb3) in patients with chronic kidney disease.

Journal of nephrology
2015

Tips to diagnose uncommon nail disorders.

Dermatologic clinics
2015

A novel LMX1B mutation in a family with end-stage renal disease of 'unknown cause'.

Clinical kidney journal
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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.

  1. Non-coding genome in nail-patella syndrome: Genetic diagnosis as a guide for personalized follow-up.
    European journal of human genetics : EJHG· 2026· PMID 41776344mais citado
  2. Orthopedic manifestations and management of nail-patella syndrome: a narrative review.
    Frontiers in pediatrics· 2026· PMID 41716707mais citado
  3. Bilateral Clubfoot in Nail-Patella Syndrome: A Rare Syndromic Case Successfully Treated with the Ponseti Method.
    Journal of orthopaedic case reports· 2026· PMID 41815646mais citado
  4. 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.
    Nephrology (Carlton, Vic.)· 2026· PMID 41806972mais citado
  5. Horns, nails, and leaky kidneys: A rare case of congenital nephrotic syndrome.
    Clinical nephrology. Case studies· 2026· PMID 41782702mais citado
  6. Case report: dual pathology of LMX1B-associated nephropathy and iga nephropathy in a middle-aged woman.
    BMC Nephrol· 2026· PMID 41992156recente
  7. From dystrophic nails to patellar hypoplasia: a closer look at nail-patella syndrome.
    Clin Rheumatol· 2026· PMID 41942626recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:2614(Orphanet)
  2. OMIM OMIM:161200(OMIM)
  3. MONDO:0008061(MONDO)
  4. GARD:7160(GARD (NIH))
  5. Variantes catalogadas(ClinVar)
  6. Busca completa no PubMed(PubMed)
  7. Artigo Wikipedia(Wikipedia)
  8. 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

Síndrome unha-rótula
Compêndio · Raras BR

Síndrome unha-rótula

ORPHA:2614 · MONDO:0008061
Prevalência
1-9 / 100 000
Herança
Autosomal dominant
CID-10
Q87.2 · Síndromes com malformações congênitas afetando predominantemente os membros
CID-11
Ensaios
1 ativos
Início
Antenatal, Childhood, Infancy, Neonatal
Prevalência
2.2 (United Kingdom)
MedGen
UMLS
C0027341
EuropePMC
Wikidata
Wikipedia
Papers 10a
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