As displasias epifisárias múltiplas (DEMs) são caracterizadas por alterações nas cartilagens de crescimento dos ossos, causando dor nas articulações ainda na infância ou adolescência, inflamações frequentes nos ossos e cartilagens (osteocondrite) e artrose que surge cedo. As DEMs formam um grupo de doenças diversas, com sintomas que variam bastante entre os pacientes, e são classificadas de DEM 1 a DEM 6.
Introdução
O que você precisa saber de cara
As displasias epifisárias múltiplas (DEMs) são caracterizadas por alterações nas cartilagens de crescimento dos ossos, causando dor nas articulações ainda na infância ou adolescência, inflamações frequentes nos ossos e cartilagens (osteocondrite) e artrose que surge cedo. As DEMs formam um grupo de doenças diversas, com sintomas que variam bastante entre os pacientes, e são classificadas de DEM 1 a DEM 6.
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
+ 62 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 190 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
9 genes identificados com associação a esta condição. Padrão de herança: Autosomal dominant, Autosomal recessive.
Structural component of hyaline cartilage and vitreous of the eye
Secreted, extracellular space, extracellular matrix
Multiple epiphyseal dysplasia 2
A generalized skeletal dysplasia associated with significant morbidity. Joint pain, joint deformity, waddling gait, and short stature are the main clinical signs and symptoms. Radiological examination of the skeleton shows delayed, irregular mineralization of the epiphyseal ossification centers and of the centers of the carpal and tarsal bones. Multiple epiphyseal dysplasia is broadly categorized into the more severe Fairbank and the milder Ribbing types. The Fairbank type is characterized by shortness of stature, short and stubby fingers, small epiphyses in several joints, including the knee, ankle, hand, and hip. The Ribbing type is confined predominantly to the hip joints and is characterized by hands that are normal and stature that is normal or near-normal.
Structural component of hyaline cartilage and vitreous of the eye
Secreted, extracellular space, extracellular matrix
Multiple epiphyseal dysplasia 6
A generalized skeletal dysplasia associated with significant morbidity. Joint pain, joint deformity, waddling gait, and short stature are the main clinical signs and symptoms. Radiological examination of the skeleton shows delayed, irregular mineralization of the epiphyseal ossification centers and of the centers of the carpal and tarsal bones. Multiple epiphyseal dysplasia is broadly categorized into the more severe Fairbank and the milder Ribbing types. The Fairbank type is characterized by shortness of stature, short and stubby fingers, small epiphyses in several joints, including the knee, ankle, hand, and hip. The Ribbing type is confined predominantly to the hip joints and is characterized by hands that are normal and stature that is normal or near-normal.
Essential for hedgehog signaling regulation: acts both as a negative and positive regulator of sonic hedgehog (Shh) and Indian hedgehog (Ihh) pathways, acting downstream of SMO, through both SUFU-dependent and -independent mechanisms (PubMed:21633164). Involved in the regulation of microtubular dynamics. Required for proper organization of the ciliary tip and control of ciliary localization of SUFU-GLI2 complexes (By similarity). Required for localization of GLI3 to cilia in response to Shh. Neg
Cell projection, ciliumCytoplasm, cytoskeleton, cilium basal body
Type II collagen is specific for cartilaginous tissues. It is essential for the normal embryonic development of the skeleton, for linear growth and for the ability of cartilage to resist compressive forces
Secreted, extracellular space, extracellular matrix
Spondyloepiphyseal dysplasia congenital type
Disorder characterized by disproportionate short stature and pleiotropic involvement of the skeletal and ocular systems.
Major component of the extracellular matrix of cartilage and may play a role in the formation of extracellular filamentous networks
Secreted
Multiple epiphyseal dysplasia 5
A generalized skeletal dysplasia associated with significant morbidity. Joint pain, joint deformity, waddling gait, and short stature are the main clinical signs and symptoms. Radiological examination of the skeleton shows delayed, irregular mineralization of the epiphyseal ossification centers and of the centers of the carpal and tarsal bones. Multiple epiphyseal dysplasia is broadly categorized into the more severe Fairbank and the milder Ribbing types. The Fairbank type is characterized by shortness of stature, short and stubby fingers, small epiphyses in several joints, including the knee, ankle, hand, and hip. The Ribbing type is confined predominantly to the hip joints and is characterized by hands that are normal and stature that is normal or near-normal. Multiple epiphyseal dysplasia type 5 is relatively mild and clinically variable. It is primarily characterized by delayed and irregular ossification of the epiphyses and early-onset osteoarthritis.
Sulfate transporter which mediates sulfate uptake into chondrocytes in order to maintain adequate sulfation of proteoglycans which is needed for cartilage development (PubMed:11448940, PubMed:15294877, PubMed:20219950, PubMed:7923357). Mediates electroneutral anion exchange of sulfate ions for oxalate ions and of sulfate and oxalate ions for chloride ions (PubMed:20219950). Mediates exchange of sulfate and oxalate ions for hydroxyl ions and of chloride ions for bromide, iodide and nitrate ions (
Cell membraneApical cell membrane
Diastrophic dysplasia
An autosomal recessive disease characterized by osteochondrodysplasia with clinical features including dwarfism, spinal deformation, and specific joint abnormalities.
Plays a role in the structural integrity of cartilage via its interaction with other extracellular matrix proteins such as the collagens and fibronectin. Can mediate the interaction of chondrocytes with the cartilage extracellular matrix through interaction with cell surface integrin receptors (PubMed:16051604, PubMed:16542502). Could play a role in the pathogenesis of osteoarthritis (PubMed:16542502). Potent suppressor of apoptosis in both primary chondrocytes and transformed cells. Suppresses
Secreted, extracellular space, extracellular matrix
Multiple epiphyseal dysplasia 1
A generalized skeletal dysplasia associated with significant morbidity. Joint pain, joint deformity, waddling gait, and short stature are the main clinical signs and symptoms. Radiological examination of the skeleton shows delayed, irregular mineralization of the epiphyseal ossification centers and of the centers of the carpal and tarsal bones. Multiple epiphyseal dysplasia is broadly categorized into the more severe Fairbank and the milder Ribbing types. The Fairbank type is characterized by shortness of stature, short and stubby fingers, small epiphyses in several joints, including the knee, ankle, hand, and hip. The Ribbing type is confined predominantly to the hip joints and is characterized by hands that are normal and stature that is normal or near-normal.
Calcium-dependent nucleotidase with a preference for UDP. The order of activity with different substrates is UDP > GDP > UTP > GTP. Has very low activity towards ADP and even lower activity towards ATP. Does not hydrolyze AMP and GMP (PubMed:12234496, PubMed:15006348, PubMed:15248776, PubMed:16835225). Involved in proteoglycan synthesis (PubMed:22539336)
Endoplasmic reticulum membraneGolgi apparatus, Golgi stack membraneCell membrane
Desbuquois dysplasia 1
A chondrodysplasia characterized by severe prenatal and postnatal growth retardation (less than -5 SD), joint laxity, short extremities, progressive scoliosis, round face, midface hypoplasia, prominent bulging eyes. The main radiologic features are short long bones with metaphyseal splay, a 'Swedish key' appearance of the proximal femur (exaggerated trochanter), and advance carpal and tarsal bone age. Two forms of Desbuquois dysplasia are distinguished on the basis of the presence or absence of characteristic hand anomalies: an extra ossification center distal to the second metacarpal, delta phalanx, bifid distal thumb phalanx, and phalangeal dislocations.
Structural component of hyaline cartilage and vitreous of the eye
Secreted, extracellular space, extracellular matrix
Multiple epiphyseal dysplasia 3
A generalized skeletal dysplasia associated with significant morbidity. Joint pain, joint deformity, waddling gait, and short stature are the main clinical signs and symptoms. Radiological examination of the skeleton shows delayed, irregular mineralization of the epiphyseal ossification centers and of the centers of the carpal and tarsal bones. Multiple epiphyseal dysplasia is broadly categorized into the more severe Fairbank and the milder Ribbing types. The Fairbank type is characterized by shortness of stature, short and stubby fingers, small epiphyses in several joints, including the knee, ankle, hand, and hip. The Ribbing type is confined predominantly to the hip joints and is characterized by hands that are normal and stature that is normal or near-normal.
Variantes genéticas (ClinVar)
704 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 1,355 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
21 vias biológicas associadas aos genes desta condição.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Displasia epifisária múltipla
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
Nenhum ensaio clínico registrado para esta condição.
Publicações mais relevantes
Genotype-phenotype correlations in PSACH/EDM1 patients with COMP gene variants: a comprehensive review of 830 cases.
Pseudoachondroplasia (PSACH) and multiple epiphyseal dysplasia-1 (EDM1) are two rare skeletal diseases that represent distinct endpoints of a continuous phenotypic spectrum with substantial clinical overlap, caused by variants in the gene coding cartilage oligomeric matrix protein (COMP). To summarize the clinical characteristics of PSACH/EDM1 and variants of COMP gene, as well as to explore the correlations between them. PubMed, China National Knowledge Infrastructure, and Wanfang were searched for case reports and case series of patients with genetic diagnosis of PSACH/EDM1 from the inception to 24 March 2025. The clinical characteristics and gene variants of enrolled patients were analyzed and compared to explore genotype-phenotype correlation. A total of 830 PSACH/EDM1 patients (471probands) harboring 224 different variants of COMP gene were enrolled from 106 articles, with missense variants accounting for the majority (80.8%). Exon 13 (183 probands, 38.9%) and type III (T3) repeat domain (413 probands, 87.7%) were the most commonly affected regions, with c.1417_1419del (p.Asp473del) being the most common hotspot variant. Compared with EDM1, PSACH manifested earlier age of onset (p < 0.001), shorter stature (p < 0.001), higher rates of lower limb deformity (p < 0.001), joint laxity (p = 0.041), anterior beaking of the vertebra and irregular/flared metaphysis (p < 0.001), while lower rate of joint pain/osteoarthritis (p < 0.001) and abnormal femoral head (p = 0.008). Missense variants in T3-4 and T3-5 were more likely to cause EDM1 (all p < 0.001), while those in T3-1 and T3-6 to T3-8 were associated with a greater frequency of PSACH (p = 0.002 to 0.023). Majority of in-frame variants were found in PSACH, as c.1417_1419del (p.Asp473del) being PSACH specific. PSACH exhibits more severe phenotypes than EDM1, even with phenotypic overlap. In-frame variants are more strongly associated with PSACH, as the hotspot variant p.Asp473del exclusively identified in PSACH. In contrast, missense variants in T3-4 and T3-5 show a stronger association with EDM1.
Human pluripotent stem cell model of multiple epiphyseal dysplasia with MATN3 mutation identifies altered matrix organisation and upregulation of the cholesterol biosynthesis pathway.
Multiple epiphyseal dysplasia (MED), caused by mutations in MATN3, is a chondrodysplasia affecting the cartilage growth plate and is characterised by delayed epiphyseal ossification, short stature, and early onset osteoarthritis. Here we generated an in vitro human pluripotent stem cell (hPSC) model of cartilage growth-plate development to identify pathogenic mechanisms underlying MED. hPSCs were differentiated to chondrocytes via a mesenchymal intermediate, followed by TGFβ3+BMP2 induced chondrogenic pellet culture. MATN3-mutant hPSCs were generated by reprogramming MED patient PBMCs or by CRISPR-Cas9 gene editing to introduce a MATN3 mutation in a hESC line. RNAseq was used to assess chondrogenesis and identify MED pathogenic mechanisms. Transmission electron microscopy (TEM) was used to assess extracellular matrix assembly. The resultant hPSC-derived cartilage pellets displayed a typical cartilage morphology and strongly expressed cartilage matrix markers, e.g., collagen II and matrilin-3. Matrilin-3 protein was detected within both the matrix and cells of heterozygous mutant hPSC-cartilage pellets. RNAseq of mutant hPSC-cartilage pellets revealed significant enrichment for 'ECM organisation' and 'cholesterol biosynthesis' pathway genes as well as sightly increased expression of some unfolded protein response (UPR) marker genes. MATN3 mutant hPSC-derived cartilage pellets displayed abnormal matrix assembly, distended ER, accumulation of lipid droplets, and increased cholesterol content. Our model revealed mutant matrilin-3 induces cholesterol biosynthesis pathway upregulation and abnormal matrix assembly during MED pathogenesis. This study provides new insights into the molecular mechanisms underlying MED and highlights potential therapeutic targets.
Total knee arthroplasty with simultaneous triplanar osteotomy of the distal femur using patient-specific instrumentation : A case report.
Performing a one-stage periarticular osteotomy in conjunction with total knee arthroplasty (TKA) constitutes a technically complex procedure. In such demanding cases, a personalized approach utilizing patient-specific instrumentation (PSI) may serve as an advantageous option to achieve optimal precision in bone cuts, thereby enhancing both clinical and radiological postoperative outcomes. We present a case report of a 22-year-old man with multiple epiphyseal dysplasia (MED) resulting in knee osteoarthritis with complex femoral deformity and restricted (passive at 30-120° and active at 80-120°) range of movement (ROM). Simultaneous TKA and triplanar osteotomy with the use of PSI stabilized with the prosthesis stem was performed. The treatment resulted in correct limb and implant positioning. The functional improvement and bone union were confirmed 1 year after TKA. The patient did not report any pain in the operated joints and achieved passive 0-120° and active 10-120° ROM of the operated right knee. Although the latest reports do not demonstrate improved clinical outcomes for PSI in periarticular osteotomies and TKAs separately, we highlight the benefits of PSI in complex deformities, particularly in patients requiring a combination of these two methods. ZWECK: Die Durchführung einer einzeitigen periartikulären Osteotomie in Verbindung mit einer Knietotalendoprothese (TEP) ist ein technisch komplexes Verfahren. In solch anspruchsvollen Fällen kann ein personalisierter Ansatz mit patientenspezifischem Instrumentarium (PSI) eine vorteilhafte Option sein, um eine optimale Präzision der Knochenschnitte zu erreichen und dadurch sowohl die klinischen als auch die radiologischen postoperativen Ergebnisse zu verbessern. Wir berichten über den Fall eines 22-jährigen Mannes mit multipler epiphysärer Dysplasie (MED), die zu einer Kniearthrose mit komplexer Femurdeformität und eingeschränktem Bewegungsumfang (ROM; passiv bei 30-120° und aktiv bei 80-120°) führte. Es wurde eine gleichzeitige TEP und triplanare Osteotomie unter Verwendung eines mit dem Prothesenschaft stabilisierten PSI durchgeführt. Die Behandlung führte zu einer korrekten Positionierung der Extremität und des Implantats. Die funktionelle Verbesserung und die Knochenvereinigung wurden ein Jahr nach der TEP bestätigt. Der Patient berichtete über keinerlei Schmerzen in den operierten Gelenken und erreichte einen passiven ROM von 0‑120° und einen aktiven ROM von 10-120° für das operierte rechte Knie. Obwohl die neuesten Berichte keine verbesserten klinischen Ergebnisse für PSI bei periartikulären Osteotomien und TEP separat belegen, heben wir die Vorteile der PSI bei komplexen Deformitäten hervor, insbesondere bei Patienten, die eine Kombination dieser beiden Methoden benötigen.
Elevated MMP9 Expression-A Potential In Vitro Biomarker for COMPopathies.
The intracellular retention of misfolded extracellular matrix proteins is a common disease mechanism in various rare skeletal diseases. This discovery has driven the study of ER stress and the unfolded protein response (UPR) as a promising therapeutic target in several skeletal dysplasias. In the case of COL10A1 mutations, targeting the UPR resulted in a clinical trial of the repurposed drug carbamazepine; however, for other closely related skeletal disorders, treatment with carbamazepine was ineffective, indicating the need for suitable markers for in vitro screenings of potential drug treatments. Mutations in cartilage oligomeric matrix protein (COMP), a cartilage structural protein, cause both multiple epiphyseal dysplasia (MED) and pseudoachondroplasia (PSACH); together referred to as the COMPopathies, which result from the intracellular retention of mutant COMP to varying degrees. In contrast to other closely related skeletal disorders, caused by mutations in cartilage structural proteins, the involvement of the UPR is less clear, and so far, no common COMPopathy marker has been identified. Here, using cell models of COMPopathies, we identified MMP9 upregulation as a common feature of six pathogenic COMP variants that do not induce a prominent UPR. We further show that the archetypal p.V194D matrilin-3 MED variant (which causes MED) does not induce MMP9 expression, suggesting that MMP9 upregulation could serve as a specific marker of COMPopathies in vitro.
From Protein Misfolding to Extracellular Matrix Disorganisation: Understanding Disease Pathology in Rare Skeletal Dysplasias.
Pseudoachondroplasia (PSACH) and multiple epiphyseal dysplasia (MED) are rare, autosomal dominant skeletal dysplasias characterised by disproportionate short stature, joint deformities, and early-onset osteoarthritis. These conditions result from mutations in key cartilage extracellular matrix (ECM) components, including cartilage oligomeric matrix protein (COMP), matrilin-3, and type IX collagen. Although genetically and clinically heterogeneous, PSACH and MED share convergent pathogenic mechanisms. Misfolded mutant ECM proteins are retained within the endoplasmic reticulum (ER) of growth plate chondrocytes, triggering chronic ER stress and impairing chondrocyte proliferation, differentiation, and survival. Moreover, some of the mutant protein is secreted and incorporated into the matrix, leading to altered collagen fibrillogenesis, disrupted proteoglycan distribution, and compromised biomechanical integrity. These alterations extend beyond cartilage, impacting tendons, ligaments, and muscle-tendon junctions, contributing to joint laxity, impaired force transmission, and mild myopathy. This review discusses the structural and functional consequences of ECM disorganisation in PSACH and MED, highlighting its central role in disease progression and emphasising the importance of considering ECM abnormalities when developing therapeutic strategies for rare short stature-associated skeletal disorders.
Publicações recentes
Genotype-phenotype correlations in PSACH/EDM1 patients with COMP gene variants: a comprehensive review of 830 cases.
Human pluripotent stem cell model of multiple epiphyseal dysplasia with MATN3 mutation identifies altered matrix organisation and upregulation of the cholesterol biosynthesis pathway.
Elevated MMP9 Expression-A Potential In Vitro Biomarker for COMPopathies.
🥈 ObservacionalExome Sequencing Identifies a Novel Splicing Variant in COL9A3 Resulting in Multiple Epiphyseal Dysplasia: A Case Report.
From Protein Misfolding to Extracellular Matrix Disorganisation: Understanding Disease Pathology in Rare Skeletal Dysplasias.
📚 EuropePMC250 artigos no totalmostrando 115
Genotype-phenotype correlations in PSACH/EDM1 patients with COMP gene variants: a comprehensive review of 830 cases.
Frontiers in endocrinologyHuman pluripotent stem cell model of multiple epiphyseal dysplasia with MATN3 mutation identifies altered matrix organisation and upregulation of the cholesterol biosynthesis pathway.
Osteoarthritis and cartilageElevated MMP9 Expression-A Potential In Vitro Biomarker for COMPopathies.
International journal of molecular sciencesExome Sequencing Identifies a Novel Splicing Variant in COL9A3 Resulting in Multiple Epiphyseal Dysplasia: A Case Report.
Molecular genetics & genomic medicineFrom Protein Misfolding to Extracellular Matrix Disorganisation: Understanding Disease Pathology in Rare Skeletal Dysplasias.
International journal of molecular sciencesGenetic Analysis of Familial Developmental Dysplasia of the Hip Associated With a Heterozygous Variant in the COMP Gene: A Case Report.
Molecular genetics & genomic medicineTotal knee arthroplasty with simultaneous triplanar osteotomy of the distal femur using patient-specific instrumentation : A case report.
Orthopadie (Heidelberg, Germany)Clinical outcomes of total hip arthroplasty in patients with multiple epiphyseal dysplasia: a single centre study of eighty eight hips at a mean of sixteen year follow-up.
International orthopaedicsConcurrent mutations in RNU4ATAC, PLEC, and CD96 in a child with severe short stature and skeletal dysplasia: a case report.
Italian journal of pediatrics[Skeletal dysplasias-Multidisciplinary orthopedics].
Orthopadie (Heidelberg, Germany)C-type natriuretic peptide and collagen X marker are aberrant in skeletal dysplasias.
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral ResearchWolcott-Rallison syndrome: late-onset diabetes, multiple epiphyseal dysplasia, and acute liver failure - a case report.
Journal of pediatric endocrinology & metabolism : JPEM[Clinical analysis in 15 pediatric patients with osteochondrodysplasias related to COMP gene variants].
Zhonghua er ke za zhi = Chinese journal of pediatricsRecognizing multiple epiphyseal dysplasia in children presenting with joint pain: a commonly overlooked skeletal dysplasia.
European journal of pediatricsExpanding the Clinical Spectrum of BCARD Syndrome Caused by Novel Biallelic Variants in the PLOD3 Gene.
Clinical geneticsMental health conditions, physical functioning, and health-related quality of life in adults with a skeletal dysplasia: a cross-sectional multinational study.
Orphanet journal of rare diseasesAn Interesting Case of Multiple Epiphyseal Dysplasia Masquerading as Myopathy in a Southeast Asian Girl.
CureusStaged Bilateral Total Hip Arthroplasty in an Adolescent Patient With Multiple Epiphyseal Dysplasia and Bilateral Avascular Necrosis.
Arthroplasty todayComponent Mix-Match for Anatomic Total Shoulder Arthroplasty Revision: A Case Report.
CureusCOL9A1-related disorder with pectus carinatum, without epiphyseal dysplasia: case report and review of literature.
Skeletal radiologyFrom Desbuquois Dysplasia to Multiple Epiphyseal Dysplasia: The Clinical Impact of a CANT1 Variant Across Five Unrelated Families.
American journal of medical genetics. Part AMultiple Osteochondritis Dissecans as Main Manifestation of Multiple Epiphyseal Dysplasia Caused by a Novel Cartilage Oligomeric Matrix Protein Pathogenic Variant: A Clinical Report.
GenesTwo families with spondylo-epi-metaphyseal dysplasia due to compound heterozygocity in the vWFA domain of MATN3.
European journal of medical geneticsA 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 SurgeryBiallelic variants in SLC26A2 cause multiple epiphyseal dysplasia-4 by disturbing chondrocyte homeostasis.
Orphanet journal of rare diseases[Analysis of genetic variants and molecular pathogenesis in a Chinese pedigree affected with Multiple epiphyseal dysplasia].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical geneticsMultiple Epiphyseal Dysplasia With Knee Joint Locking Symptoms Caused by Intra-articular Loose Bodies.
CureusTotal Knee Arthroplasty in Patients Who Have Skeletal Dysplasia: A Center's Experience With a Mean 9-Year Follow-Up.
The Journal of arthroplastyFurther characterization of ARSK-related mucopolysaccharidosis type 10.
American journal of medical genetics. Part AJoint Space Widening in Multiple Epiphyseal Dysplasia.
Deutsches Arzteblatt internationalStemless total shoulder arthroplasty for multiple epiphyseal dysplasia in a 52-year-old patient: a case report.
JSES internationalTrends in Serum Cytokine Expression in Pediatric Skeletal Dysplasia.
JBMR plusThe molecular mechanisms of glycosaminoglycan biosynthesis regulating chondrogenesis and endochondral ossification.
Life sciencesThe favorable outcome of Bernese periacetabular osteotomy for the hip osteoarthritis in multiple epiphyseal dysplasia.
Orphanet journal of rare diseasesRecurrent Mutation (p.Arg718Pro) in the COMP Gene with Clinical Heterogeneity of Pseudoachondroplasia.
Molecular syndromologyOnychodystrophy with Multiple Epiphyseal Dysplasia: Literature Review.
Skin appendage disordersClinical Experience from a Single Tertiary Care Center: Neonatal Diabetes Mellitus with Multiple Epiphyseal Dysplasia-Wolcott-Rallison's Syndrome.
Journal of pediatric geneticsMultiple epiphyseal dysplasia tip 5: Case report a rare skeletal dysplasıa presenting with repetitive joint pain in children.
International journal of surgery case reports[Clinical and genetic characteristics of 9 rare cases with coexistence of dual genetic diagnoses].
Zhonghua er ke za zhi = Chinese journal of pediatricsCurcumin Reduces Pathological Endoplasmic Reticulum Stress through Increasing Proteolysis of Mutant Matrilin-3.
International journal of molecular sciencesSLC26A2/DTDST Spectrum: A Cohort of 12 Patients Associated with a Comprehensive Review of the Genotype-Phenotype Correlation.
Molecular syndromologyA case of congenital multiple epiphyseal dysplasia from the Late Migration Period graveyard in Drnholec (Czech Republic).
International journal of paleopathologyDoes Flexion Varus Osteotomy Improve Radiographic Findings Compared With Patients Treated in a Brace for Late-onset Legg-Calvé-Perthes Disease?
Clinical orthopaedics and related researchClinical and Genetic Characteristics of Multiple Epiphyseal Dysplasia Type 4.
GenesWolcott-Rallison syndrome: a case series of three patients.
Pediatric endocrinology, diabetes, and metabolismExome sequencing revealed USP9X and COL2A1 mutations in a large family with multiple epiphyseal dysplasia.
BoneDouble-layered patella management in total knee arthroplasty for secondary osteoarthritis: A case report.
Journal of ISAKOS : joint disorders & orthopaedic sports medicineIdentification of recurrent pathogenic alleles using exome sequencing data: Proof-of-concept study of Russian subjects.
European journal of medical geneticsHealth-related Quality of Life in Adult Patients with Multiple Epiphyseal Dysplasia and Spondyloepiphyseal Dysplasia.
Progress in rehabilitation medicineMassager-Induced Anterior Subcapsular Cataracts and Keratoconus in a Patient With Multiple Epiphyseal Dysplasia.
CureusClinical, Biochemical, Radiological, Genetic and Therapeutic Analysis of Patients with COMP Gene Variants.
Calcified tissue internationalDescription of Joint Alterations Observed in a Family Carrying p.Asn453Ser COMP Variant: Clinical Phenotypes, In Silico Prediction of Functional Impact on COMP Protein and Stability, and Review of the Literature.
BiomoleculesA unique case of skeletal dysplasia in an adult male in Late Iron Age Switzerland.
International journal of paleopathologySLC26A2-Associated Diastrophic Dysplasia and rMED-Clinical Features in Affected Finnish Children and Review of the Literature.
GenesAn iPS cell line SDUBMSi0011-A from a multiple epiphyseal dysplasia patient carrying c. 1076T > G mutation in the SMOC2 gene.
Stem cell researchOutcomes of complex primary total knee arthroplasties performed with custom cutting guides.
The KneeRecessive multiple epiphyseal dysplasia and Stargardt disease in two sisters.
Molecular genetics & genomic medicineHeterozygous COL9A3 variants cause severe peripheral vitreoretinal degeneration and retinal detachment.
European journal of human genetics : EJHGExpanding the phenotypic spectrum of RPL13-related skeletal dysplasia.
American journal of medical genetics. Part ACan Chiari Osteotomy Favorably Influence Long-term Hip Degradation in Multiple Epiphyseal Dysplasia and Pseudoachondroplasia?
Journal of pediatric orthopedicsAge Dependent Progression of Multiple Epiphyseal Dysplasia and Pseudoachondroplasia Due to Heterozygous Mutations in COMP Gene.
Prague medical reportBilateral double-layered patella in a patient with advanced knee osteoarthritis.
Folia morphologicaMutations in COMP cause familial carpal tunnel syndrome.
Nature communicationsMultiple epiphyseal dysplasia and related disorders: Molecular genetics, disease mechanisms, and therapeutic avenues.
Developmental dynamics : an official publication of the American Association of AnatomistsA novel COMP mutation in a Chinese family with multiple epiphyseal dysplasia.
BMC medical geneticsMultiple occurrence of premature polyarticular osteoarthritis in an early medieval Bohemian cemetery (Prague, Czech Republic).
International journal of paleopathologyJoint Replacements in Individuals With Skeletal Dysplasias: One Institution's Experience and Response to Operative Complications.
The Journal of arthroplastyA novel p.A191D matrilin-3 variant in a Vietnamese family with multiple epiphyseal dysplasia: a case report.
BMC musculoskeletal disordersSpondylo-epi-metaphyseal dysplasia due to a homozygous missense mutation in the gene encoding Matrilin-3 (T120M).
Bone reportsA de novo frameshift FGFR1 mutation extending the protein in an individual with multiple epiphyseal dysplasia and hypogonadotropic hypogonadism without anosmia.
European journal of medical geneticsPatients with musculoskeletal dysplasia undergoing total joint arthroplasty are at increased risk of surgical site Infection.
Orthopaedics & traumatology, surgery & research : OTSRExome-wide copy number variation analysis identifies a COL9A1 in frame deletion that is associated with hearing loss.
European journal of medical geneticsXBP1 signalling is essential for alleviating mutant protein aggregation in ER-stress related skeletal disease.
PLoS genetics[Research status of correlation between type IX collagen gene and musculoskeletal diseases].
Zhongguo gu shang = China journal of orthopaedics and traumatologyExome sequencing reveals a novel COL2A1 mutation implicated in multiple epiphyseal dysplasia.
American journal of medical genetics. Part AMesencephalic astrocyte-derived neurotropic factor is an important factor in chondrocyte ER homeostasis.
Cell stress & chaperonesPathogenic gene screening in 91 Chinese patients with short stature of unknown etiology with a targeted next-generation sequencing panel.
BMC medical geneticsAn Infant With Neonatal Diabetes and Double Outlet Right Ventricle - Wolcott- Rallison syndrome.
Medical archives (Sarajevo, Bosnia and Herzegovina)Recessive multiple epiphyseal dysplasia - Clinical characteristics caused by rare compound heterozygous SLC26A2 genotypes.
European journal of medical geneticsLowry-Wood syndrome: further evidence of association with RNU4ATAC, and correlation between genotype and phenotype.
Human geneticsPeriacetabular Osteotomy Improves Pain and Function in Patients With Lateral Center-edge Angle Between 18° and 25°, but Are These Hips Really Borderline Dysplastic?
Clinical orthopaedics and related researchAlu-Alu mediated intragenic duplications in IFT81 and MATN3 are associated with skeletal dysplasias.
Human mutationArticulated Hip Distraction for Impingement of the Deformed Femoral Head in a Patient with Multiple Epiphyseal Dysplasia: A Case Report.
JBJS case connectorTwo novel mutations of COMP in Japanese boys with pseudoachondroplasia.
Human genome variationDual novel mutations in SLC26A2 in two siblings with multiple epiphyseal dysplasia 4 from a Chinese family: a case report.
BMC medical geneticsDeformity correction with total knee arthroplasty for severe knee osteoarthritis accompanying extra-articular femoral deformity: the results are promising.
Knee surgery, sports traumatology, arthroscopy : official journal of the ESSKACartilage oligomeric matrix protein: COMPopathies and beyond.
Matrix biology : journal of the International Society for Matrix BiologyHybrid total hip arthroplasty for multiple epiphyseal dysplasia.
Orthopaedics & traumatology, surgery & research : OTSRThe expanding phenotype of RNU4ATAC pathogenic variants to Lowry Wood syndrome.
American journal of medical genetics. Part ANovel mutations in the cartilage oligomeric matrix protein gene identified in two Taiwanese patients with pseudoachondroplasia and multiple epiphyseal dysplasia.
Pediatrics and neonatologyTraumatic separation of osseous segments in a double-layered patella.
International journal of surgery case reportsMultiple SLC26A2 mutations occurring in a three-generational family.
European journal of medical geneticsModyfied wedge osteotomy for osteoarthritis of elbow secondary to osteochondritis dissecans in adolecent with multiple epiphyseal dysplasia. A case report.
Journal of orthopaedicsEarly Osteoarthritis and Double-Layered Patella in a Patient With Multiple Epiphyseal Dysplasia.
Archives of rheumatologyMED resulting from recessively inherited mutations in the gene encoding calcium-activated nucleotidase CANT1.
American journal of medical genetics. Part AHomozygosity for a missense variant in COMP gene associated with severe pseudoachondroplasia.
Clinical geneticsDouble-Layered Patella (DLP) in Multiple Epiphyseal Dysplasia (MED).
Journal of the Belgian Society of RadiologyDiagnosis with Multiple Epiphyseal Dysplasia Using Whole-exome Sequencing in a Chinese Family.
Chinese medical journalThe fate of hips that are conservatively treated in multiple epiphyseal dysplasia.
Journal of pediatric orthopedics. Part BPartial double-layered patella in a nondysplasic adolescent.
Journal of pediatric orthopedics. Part BExtensive Arthroscopic Chondroplasty for Cartilage Hyperplasia of the Femoral Condyle Causing Recurrent Knee Locking in a Patient With Multiple Epiphyseal Dysplasia.
Arthroscopy techniquesBeaulieu-Boycott-Innes syndrome: an intellectual disability syndrome with characteristic facies.
Clinical dysmorphologyMultiple epiphyseal dysplasia mimicking osteoarthritis due to acetabular dysplasia: A report of a familial case with a COMP mutation.
Journal of orthopaedic science : official journal of the Japanese Orthopaedic AssociationTissue-engineered cartilage implantation for the chondral lesion in a patient with multiple epiphyseal dysplasia.
Journal of orthopaedic science : official journal of the Japanese Orthopaedic AssociationTHE 3rd W522X MUTATION IN EIF2AK3 GENE FROM TURKEY: A NEW PATIENT WITH WOLCOTT-RALLISON SYNDROME.
Genetic counseling (Geneva, Switzerland)Bilateral Second Carpal Row Duplication Associated with Multiple Epiphyseal Dysplasia.
Journal of wrist surgeryNew therapeutic targets in rare genetic skeletal diseases.
Expert opinion on orphan drugsMultiple functions of the first EGF domain in matrilin-3: Secretion and endoplasmic reticulum stress.
International journal of molecular medicinePaleopathological Study of Dwarfism-Related Skeletal Dysplasia in a Late Joseon Dynasty (South Korean) Population.
PloS oneForearm lengthening by distraction osteogenesis: A report on 5 limbs in 3 cases.
The journal of medical investigation : JMISingle-Stage Corrective Osteotomies for Multiple Angular Deformities Around the Knee Joint with Patellar Instability in a Patient with Multiple Epiphyseal Dysplasia: A Case Report.
JBJS case connectorThe utility of mouse models to provide information regarding the pathomolecular mechanisms in human genetic skeletal diseases: The emerging role of endoplasmic reticulum stress (Review).
International journal of molecular medicineIncreased classical endoplasmic reticulum stress is sufficient to reduce chondrocyte proliferation rate in the growth plate and decrease bone growth.
PloS oneMultiple epiphyseal dysplasia.
The Journal of the American Academy of Orthopaedic SurgeonsA study of the clinical and radiological features in a cohort of 93 patients with a COL2A1 mutation causing spondyloepiphyseal dysplasia congenita or a related phenotype.
American journal of medical genetics. Part AAssociações
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 Displasia epifisária múltipla
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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.
- Genotype-phenotype correlations in PSACH/EDM1 patients with COMP gene variants: a comprehensive review of 830 cases.
- Human pluripotent stem cell model of multiple epiphyseal dysplasia with MATN3 mutation identifies altered matrix organisation and upregulation of the cholesterol biosynthesis pathway.
- Total knee arthroplasty with simultaneous triplanar osteotomy of the distal femur using patient-specific instrumentation : A case report.
- Elevated MMP9 Expression-A Potential In Vitro Biomarker for COMPopathies.
- From Protein Misfolding to Extracellular Matrix Disorganisation: Understanding Disease Pathology in Rare Skeletal Dysplasias.
- Exome Sequencing Identifies a Novel Splicing Variant in COL9A3 Resulting in Multiple Epiphyseal Dysplasia: A Case Report.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:251(Orphanet)
- MONDO:0016648(MONDO)
- GARD:10756(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Q1452604(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
