Raras
Buscar doenças, sintomas, genes...
Osteocondromas múltiplos
ORPHA:321CID-10 · Q78.6CID-11 · LD24.20DOENÇA RARA

Neoplasia óssea caracterizada pelo desenvolvimento de duas ou mais protuberâncias ósseas revestidas de cartilagem (osteocondromas) dos ossos longos.

Mantido por Agente Raras·Colaborar como especialista →

Introdução

O que você precisa saber de cara

📋

Neoplasia óssea caracterizada pelo desenvolvimento de duas ou mais protuberâncias ósseas revestidas de cartilagem (osteocondromas) dos ossos longos.

Pesquisas ativas
2 ensaios
14 total registrados no ClinicalTrials.gov
Publicações científicas
305 artigos
Último publicado: 2026 Apr 12

Escala de raridade

CLASSIFICAÇÃO ORPHANET · BRASIL 2024
>1 / 1000
Ultra-rara
<1/50k
Muito rara
1/20k
Rara
1/10k
Pouco freq.
1/5k
Incomum
1/2k
Prevalência
100.0
Specific population
Início
Childhood
🏥
SUS: Cobertura mínimaScore: 15%
CID-10: Q78.6
🇧🇷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
18 sintomas
👂
Ouvidos
3 sintomas
🫃
Digestivo
2 sintomas
🫁
Pulmão
1 sintomas
🫘
Rins
1 sintomas
📏
Crescimento
1 sintomas

+ 32 sintomas em outras categorias

Características mais comuns

100%prev.
Osteocondroma
55%prev.
Morfologia anormal dos ossos do membro inferior
Frequente (79-30%)
55%prev.
Déficit motor funcional
Frequente (79-30%)
55%prev.
Limitação da mobilidade articular
Frequente (79-30%)
55%prev.
Baixa estatura
Frequente (79-30%)
55%prev.
Morfologia anormal da cartilagem
Frequente (79-30%)
61sintomas
Muito frequente (1)
Frequente (10)
Ocasional (24)
Muito raro (21)
Sem dados (5)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 61 características clínicas mais associadas, ordenadas por frequência.

OsteocondromaOsteochondroma
Muito frequente100%
Morfologia anormal dos ossos do membro inferiorAbnormal lower limb bone morphology
Frequente (79-30%)55%
Déficit motor funcionalFunctional motor deficit
Frequente (79-30%)55%
Limitação da mobilidade articularLimitation of joint mobility
Frequente (79-30%)55%
Baixa estaturaShort stature
Frequente (79-30%)55%

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Total histórico305PubMed
Últimos 10 anos180publicações
Pico202523 papers
Linha do tempo
2026Hoje · 2026🧪 1998Primeiro 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

2 genes identificados com associação a esta condição. Padrão de herança: Autosomal dominant.

EXT2Exostosin-2Disease-causing germline mutation(s) (loss of function) inTolerante
FUNÇÃO

Glycosyltransferase forming with EXT1 the heterodimeric heparan sulfate polymerase which catalyzes the elongation of the heparan sulfate glycan backbone (PubMed:22660413, PubMed:36402845, PubMed:36593275). Glycan backbone extension consists in the alternating transfer of (1->4)-beta-D-GlcA and (1->4)-alpha-D-GlcNAc residues from their respective UDP-sugar donors. Both EXT1 and EXT2 are required for the full activity of the polymerase since EXT1 bears the N-acetylglucosaminyl-proteoglycan 4-beta-

LOCALIZAÇÃO

Golgi apparatus membraneGolgi apparatus, cis-Golgi network membraneEndoplasmic reticulum membraneSecreted

VIAS BIOLÓGICAS (2)
HS-GAG biosynthesisDefective EXT1 causes exostoses 1, TRPS2 and CHDS
MECANISMO DE DOENÇA

Hereditary multiple exostoses 2

EXT is a genetically heterogeneous bone disorder caused by genes segregating on human chromosomes 8, 11, and 19 and designated EXT1, EXT2 and EXT3 respectively. EXT is a dominantly inherited skeletal disorder primarily affecting endochondral bone during growth. The disease is characterized by formation of numerous cartilage-capped, benign bone tumors (osteocartilaginous exostoses or osteochondromas) that are often accompanied by skeletal deformities and short stature. In a small percentage of cases exostoses have exhibited malignant transformation resulting in an osteosarcoma or chondrosarcoma. Osteochondromas development can also occur as a sporadic event.

EXPRESSÃO TECIDUAL(Ubíquo)
Fibroblastos
101.7 TPM
Útero
68.9 TPM
Cervix Endocervix
62.0 TPM
Aorta
59.6 TPM
Cervix Ectocervix
58.9 TPM
OUTRAS DOENÇAS (4)
seizures-scoliosis-macrocephaly syndromeexostoses, multiple, type 2Potocki-Shaffer syndromehereditary multiple osteochondromas
HGNC:3513UniProt:Q93063
EXT1Exostosin-1Disease-causing germline mutation(s) inAltamente restrito
FUNÇÃO

Glycosyltransferase forming with EXT2 the heterodimeric heparan sulfate polymerase which catalyzes the elongation of the heparan sulfate glycan backbone (PubMed:10639137, PubMed:22660413, PubMed:36402845, PubMed:36593275, PubMed:9620772). Glycan backbone extension consists in the alternating transfer of (1->4)-beta-D-GlcA and (1->4)-alpha-D-GlcNAc residues from their respective UDP-sugar donors. Both EXT1 and EXT2 are required for the full activity of the polymerase since EXT1 bears the N-acetyl

LOCALIZAÇÃO

Golgi apparatus membraneGolgi apparatus, cis-Golgi network membraneEndoplasmic reticulum membrane

VIAS BIOLÓGICAS (2)
HS-GAG biosynthesisDefective EXT2 causes exostoses 2
MECANISMO DE DOENÇA

Hereditary multiple exostoses 1

EXT is a genetically heterogeneous bone disorder caused by genes segregating on human chromosomes 8, 11, and 19 and designated EXT1, EXT2 and EXT3 respectively. EXT is a dominantly inherited skeletal disorder primarily affecting endochondral bone during growth. The disease is characterized by formation of numerous cartilage-capped, benign bone tumors (osteocartilaginous exostoses or osteochondromas) that are often accompanied by skeletal deformities and short stature. In a small percentage of cases exostoses have exhibited malignant transformation resulting in an osteosarcoma or chondrosarcoma. Osteochondromas development can also occur as a sporadic event.

EXPRESSÃO TECIDUAL(Ubíquo)
Aorta
72.2 TPM
Fibroblastos
49.8 TPM
Artéria tibial
39.0 TPM
Artéria coronária
34.6 TPM
Pulmão
23.8 TPM
OUTRAS DOENÇAS (4)
chondrosarcomaexostoses, multiple, type 1trichorhinophalangeal syndrome type IIhereditary multiple osteochondromas
HGNC:3512UniProt:Q16394

Variantes genéticas (ClinVar)

943 variantes patogênicas registradas no ClinVar.

🧬 EXT2: NM_207122.2(EXT2):c.1908del (p.Asn637fs) ()
🧬 EXT2: NM_207122.2(EXT2):c.263_291del (p.His88fs) ()
🧬 EXT2: NM_207122.2(EXT2):c.672dup (p.Gly225fs) ()
🧬 EXT2: NM_207122.2(EXT2):c.918del (p.Phe306fs) ()
🧬 EXT2: NM_207122.2(EXT2):c.441del (p.Asn148fs) ()
Ver todas no ClinVar

Vias biológicas (Reactome)

3 vias biológicas associadas aos genes desta condição.

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-clínico5
Medicamentos catalogadosEnsaios clínicos· 0 medicamentos · 5 ensaios
Carregando informações de tratamento...

Onde tratar no SUS

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

🇧🇷 Atendimento SUS — Osteocondromas múltiplos

🗺️

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

2 pesquisas recrutando participantes. Converse com seu médico sobre a possibilidade de participar.

Outros ensaios clínicos

14 ensaios clínicos encontrados, 2 ativos.

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

Timeline de publicações
186 papers (10 anos)
#1

Robot-assisted resection of a large intrathoracic osteochondroma originating from the third rib in the context of hereditary multiple osteochondroma syndrome.

Multimedia manual of cardiothoracic surgery : MMCTS2026 Mar 20

This video tutorial presents a robot-assisted surgical resection using the da Vinci X system of an intrathoracic osteochondroma originating from the right third rib, in the context of hereditary multiple osteochondromas in a young patient who had previously undergone thoracotomy on the same side for resection of previous osteochondroma.

#2

Radiographic outcomes of a treatment approach for lower leg deformities in patients with hereditary multiple exostoses.

Journal of pediatric orthopedics. Part B2026 Mar 02

Hereditary multiple exostoses (HME) represent a rare skeletal disorder characterized by multiple osteochondromas, often leading to angular deformities in the lower limbs as well as leg length discrepancy (LLD), managed with tension band plates (TBP) for deformity correction. However, the utility of both angular deformity and LLD in HME has not been comprehensively evaluated. In this study, we retrospectively reviewed 25 pediatric patients with HME who visited our institution and reached skeletal maturity between 2012 and 2024, assessing a total of 50 limbs. Surgical indications included patients aged greater than 10 years with an open growth plate, predicted LLD of greater than or equal to 20 mm at the skeletal maturity, and a mechanical axis zone (MAZ) greater than or equal to Zone 2. We categorized the outcomes into four groups: excellent [LLD < 10 mm; mechanical axis percentage (%MA) ≤ ±25%], good (LLD < 15 mm; %MA ≤ ±50%), fair (LLD < 20 mm or at least one limb classified as %MA ≤ ±100%), and poor (worse than the previous categories). We used paired t-tests for statistical analyses. Among the 17 surgically treated patients, TBP was performed on 27 limbs and 60 physes. In most cases, multisite and staged surgeries were required. Angular deformities improved significantly, with the mean hip-knee-ankle angle reduced from 7.8 to 2.7° (lower extremity < 0.01), and 92% of limbs achieved MAZ Zone 1. LLD was corrected from 17.6 to 5.6 mm (P < 0.01) at an average correction rate of 0.47 mm/month. The final outcomes were excellent, good, and fair or poor in 12, 11, and 2 patients, respectively. Major complications were not observed. TBP treatment is effective in correcting both angular deformity and LLD in patients with HME, offering a minimally invasive strategy for comprehensive correction of this complex skeletal dysplasia. Careful surgical planning and timing are essential and staged multisite procedures are often required.

#3

A Complex Case of Langer-Giedion Syndrome, Cornelia de Lange Syndrome Type 4, and Hereditary Multiple Osteochondromas with Mosaic 8q23.1-q24.12 Deletion.

Genes2026 Jan 31

Langer-Giedion syndrome (LGS), also known as trichorhinophalangeal syndrome type II (TRPS II; OMIM #150230), is a contiguous-gene deletion disorder caused by haploinsufficiency of TRPS1 and EXT1. Cornelia de Lange syndrome (CdLS) is genetically heterogeneous; heterozygous variants in RAD21 cause the milder CdLS type 4 phenotype (OMIM #614701). Because RAD21 lies between TRPS1 and EXT1, overlapping phenotypes may arise when all three genes are deleted. We report a unique case of a 4-year-old female presenting with a blended phenotype of Langer-Giedion Syndrome (LGS) and Cornelia de Lange Syndrome (CdLS) type 4. This case is distinct from previously reported 8q deletions in three key aspects: (1) Complex Genomic Architecture: Chromosomal microarray revealed a novel complex rearrangement consisting of a 13.01 Mb mosaic interstitial deletion at 8q23.1-q24.12, flanked by two large duplications (21.5 Mb at 8q11.23-q23.1 and 25.78 Mb at 8q24.12-q24.3). (2) Rare Mosaicism: This represents only the second reported case of mosaicism affecting this contiguous gene region. Notably, the patient demonstrates a "mosaic rescue" effect, where the mosaicism appears to have mitigated the neurodevelopmental phenotype (the patient is bilingual and ambulatory) while failing to protect the skeleton. (3) First Bone-Specific Therapy: The patient suffered from severe, recurrent fractures due to a synergistic "double hit" of TRPS1-related osteopenia and EXT1-related exostoses. We report the first successful use of bisphosphonate therapy (pamidronate) in this specific mosaic profile, which resulted in a complete cessation of fractures during a 12-month follow-up. This case underscores the utility of detailed microarray analysis in complex phenotypes and suggests bisphosphonates as a viable rescue therapy for refractory syndromic osteoporosis.

#4

Arthroscopic Anterior Cruciate Ligament Reconstruction in a 17-Year-Old Female Athlete with Multiple Hereditary Exostoses Using a Peroneus Longus Autograft: A Rare Case Report.

Journal of orthopaedic case reports2026 Feb

Hereditary multiple exostoses, also known as multiple osteochondromas, is a rare genetic disorder marked by the formation of osteocartilaginous outgrowths predominantly near the metaphysis of long bones. The knee is a commonly affected joint. Surgical reconstruction of the anterior cruciate ligament in patients with Hereditary multiple exostoses presents unique challenges due to distorted bony anatomy, posing risks to graft harvesting, tunnel positioning, and fixation. We present the case of a 17-year-old female football athlete with symptomatic Anterior cruciate ligament deficiency on a background of Hereditary multiple exostoses. Following persistent instability despite conservative management, she underwent arthroscopic Anterior cruciate ligament reconstruction using a tripled peroneus longus tendon autograft. Special precautions were taken intraoperatively to navigate anatomical distortions and ensure precise tunnel placement while avoiding conflict with osteochondromas. Fixation was achieved using a femoral Endobutton and tibial 'T' button. Anterior cruciate ligament reconstruction in patients with Hereditary multiple exostoses is feasible and can yield excellent functional outcomes when anatomical variations are meticulously accounted for in surgical planning. Peroneus longus graft is a viable option when conventional grafts are compromised or inaccessible due to exostoses. Hereditary multiple osteochondromas (HMO) (also known as multiple hereditary exostoses [MHE]) is characterized by growths of multiple osteochondromas, benign cartilage-capped bone tumors that grow outward from the metaphyses of long bones. Osteochondromas can be associated with shortened stature, bony deformity, restricted joint motion, premature osteoarthrosis, and compression of peripheral nerves. The median age of diagnosis is three years; nearly all affected individuals are diagnosed by age 12 years. The risk for malignant transformation to osteochondrosarcoma increases with age, although the lifetime risk for malignant transformation is low (~2%-10%). The diagnosis of HMO is established in a proband with characteristic radiographic findings of multiple osteochondromas and/or a heterozygous pathogenic variant in EXT1 or EXT2 identified on molecular genetic testing. Treatment of manifestations: Painful lesions in the absence of bone deformity may be treated with surgical excision that includes the cartilage cap and overlying perichondrium to prevent recurrence; forearm deformity may be treated with excision of the osteochondromas, corrective osteotomies, and/or ulnar-lengthening procedures; angular misalignment of the lower limbs may be treated with hemiepiphysiodeses (or osteotomies) at the distal femur, proximal tibia, or distal tibia; leg length inequalities may be treated with epiphysiodesis (growth plate arrest) of the longer leg; early treatment of ankle deformity may prevent or decrease later deterioration of function; sarcomatous degeneration is treated by surgical resection. Surveillance: Clinical assessment for deformity, motor impairment, pain, neurologic manifestations, and/or other clinical manifestations can be considered; there is currently no accepted timeline for surveillance. Monitoring of the size of osteochondromas in adults may aid in early identification of malignant transformation, but no cost-benefit analyses are available to support routine surveillance. Some recommend a screening spine MRI in childhood to identify spinal lesions that may cause pressure on the spinal cord and would warrant close clinical follow up with excision of lesions that cause spinal cord impingement and/or symptoms; others recommend against screening spine MRI except in those with neurologic compromise or osteochondroma(s) of the ribs or pelvis. To date, there are no prospective studies to show benefit of systematic screening MRI in asymptomatic individuals. HMO is inherited in an autosomal dominant manner. Approximately 90% of individuals diagnosed with HMO have an affected parent; approximately 10% of individuals have the disorder as the result of a de novo pathogenic variant. Each child of an individual with HMO has a 50% chance of inheriting an HMO-causing pathogenic variant. If the HMO-causing pathogenic variant has been identified in an affected family member, prenatal and preimplantation genetic testing are possible.

#5

Mycotic popliteal artery aneurysm due to exostosis treated by excision and bypass.

Journal of vascular surgery cases and innovative techniques2026 Apr

Hereditary exostosis is an autosomal-dominant condition characterized by multiple osteochondromas. A 54-year-old woman presented with 2 months of myalgias, fevers, and deep bone pain in her right lower extremity. Computed tomography angiography demonstrated a 6 × 4 cm popliteal artery aneurysm. She underwent femoral to popliteal artery bypass with the greater saphenous vein. Intraoperatively, a bony prominence was seen protruding into the aneurysm sac and resected. Blood cultures grew Streptococcus mitis, a common oral microbe that may have translocated after dental cleaning. The patient recovered well with a patent bypass and normal PVR at the 2-year follow-up.

Publicações recentes

Ver todas no PubMed

📚 EuropePMC143 artigos no totalmostrando 180

2026

Robot-assisted resection of a large intrathoracic osteochondroma originating from the third rib in the context of hereditary multiple osteochondroma syndrome.

Multimedia manual of cardiothoracic surgery : MMCTS
2026

Radiographic outcomes of a treatment approach for lower leg deformities in patients with hereditary multiple exostoses.

Journal of pediatric orthopedics. Part B
2026

A Complex Case of Langer-Giedion Syndrome, Cornelia de Lange Syndrome Type 4, and Hereditary Multiple Osteochondromas with Mosaic 8q23.1-q24.12 Deletion.

Genes
2026

Arthroscopic Anterior Cruciate Ligament Reconstruction in a 17-Year-Old Female Athlete with Multiple Hereditary Exostoses Using a Peroneus Longus Autograft: A Rare Case Report.

Journal of orthopaedic case reports
2025

Biplanar EOS screening in children with hereditary multiple osteochondromas: a feasible screening method?

Frontiers in pediatrics
2026

Mycotic popliteal artery aneurysm due to exostosis treated by excision and bypass.

Journal of vascular surgery cases and innovative techniques
2026

Osteochondroma Arising from Dorsal Pedicle Causing Compressive Myelopathy.

Journal of orthopaedic case reports
2025

Malignancy Ratio in Pediatric Patients with Hereditary Multiple Exostoses: True Association or Reporting Bias?

Pediatric reports
2026

Gene Variants Characterize and Distinguish Osteochondromas in Patients With Hereditary Multiple Osteochondromas.

Journal of orthopaedic research : official publication of the Orthopaedic Research Society
2025

Hereditary multiple osteochondromas in a child: a case report and discussion of postoperative complication management.

Frontiers in surgery
2025

A probable case of multiple osteochondromas from an Early Medieval burial site in the Venetian lagoon (Italy): Differential diagnosis and review of cases from archaeological contexts.

International journal of paleopathology
2026

Treatment strategies for osteochondromas in the distal ulna - a multicentre comparative cohort study.

The Journal of hand surgery, European volume
2025

An ectopic Hedgehog signaling axis drives directional tumor outgrowth in a mouse model of hereditary multiple osteochondromas.

Science signaling
2025

Secondary Asphyxiating Thoracic Dysplasia Due to Multiple Chondromas: A Novel Surgical Report.

Interdisciplinary cardiovascular and thoracic surgery
2025

Spontaneous Regression of Multiple Osteochondromas in a Patient With Hereditary Multiple Exostoses: A Case Report.

Cureus
2025

Identification of an IL17RC missense variant in a Chinese family with multiple osteochondromas and ankylosing spondylitis.

Journal of human genetics
2025

Bessel-Hagen Disease: A Case Report of a Rare Disease.

Cureus
2025

The Role of the Surgical Pathologist in the Recognition of Hereditary Mesenchymal Neoplasms.

Advances in anatomic pathology
2025

Physical activity level and health-related quality of life in adults with multiple osteochondromas: a Dutch cross-sectional study.

Scientific reports
2025

Bone deformities with hereditary multiple osteochondromas.

Danish medical journal
2025

Clinical factors associated with valgus knee deformities in patients with multiple osteochondromas.

Medicine
2025

Rate of Spinal Osteochondromas Diagnosed in Pediatric Patients With Hereditary Multiple Osteochondromas: A Systematic Review and Meta-Analysis.

Journal of pediatric orthopedics
2025

Pain in patients with multiple inherited osteochondromas: Incidence and potential prognostic factors. A retrospective cohort study.

Journal of bone oncology
2025

Hereditary Multiple Osteochondromas and Acute Lymphoblastic Leukemia: A Possible Role for EXT1 and EXT2 in Hematopoietic Malignancies.

American journal of medical genetics. Part A
2025

Hereditary multiple exostoses: an educational review.

Insights into imaging
2025

Paediatric vascular-related hereditary giant rib osteochondroma: report of a successful chest wall reconstruction.

Journal of cardiothoracic surgery
2025

Forearm Giant Osteochondromas in a Young Patient With Multiple Hereditary Exostoses: A Case Report.

Cureus
2025

Minimal-invasive, image guided, 360-degree resection of ilio-lumbo-sacral ostechondroma, planned on the 3D model in a child with hereditary multiple ostechondroma (HMO).

European spine journal : official publication of the European Spine Society, the European Spinal Deformity Society, and the European Section of the Cervical Spine Research Society
2024

Intrathecal Fentanyl Pump Placement in a Patient With Chronic Pain Caused by Hereditary Multiple Exostoses: A Case Report.

Cureus
2025

Update on Cancer Screening in Children with Syndromes of Bone Lesions, Hereditary Leiomyomatosis and Renal Cell Carcinoma Syndrome, and Other Rare Syndromes.

Clinical cancer research : an official journal of the American Association for Cancer Research
2023

Isolated synovial chondromatosis of the ankle: A case report.

International journal of surgery case reports
2024

Nature-based interventions for individuals with rare skeletal disorders: evaluation of a 5-day sailing program on health-related quality of life.

Scientific reports
2024

Osteosarcoma Arising from Iliac Bone Lesions of Hereditary Multiple Osteochondromas: A Case Report.

Case reports in oncology
2025

Hereditary multiple osteochondromas.

Joint bone spine
2024

A Novel Pathogenic Large Duplication in EXT1 Identified in a Family with Multiple Osteochondromas.

Genes
2023

Hereditary Multiple Exostoses with Rare Ocular Finding: A Case Report.

Journal of current ophthalmology
2024

Paediatric Calcaneal Osteochondroma: A Case Report and a Literature Review.

Diseases (Basel, Switzerland)
2024

Cases report: Mosaic structural variants of the EXT1 gene in previously genetically unconfirmed multiple osteochondromas.

Frontiers in genetics
2025

A New Classification System for Forearm Deformities Caused by Hereditary Multiple Osteochondromas.

The Journal of hand surgery
2024

Surgical Approach and Considerations for Compressive Thoracic Intraspinal Osteochondroma in Familial Hereditary Multiple Exostosis.

Diseases (Basel, Switzerland)
2024

Pain and fatigue in adult patients with multiple osteochondromas: The Netherlands.

PloS one
2024

Hereditary multiple exostoses with a giant osteochondroma degenerated into chondrosarcoma.

Radiology case reports
2024

Subungual melanoma with cartilaginous differentiation: Molecular insights.

Journal of cutaneous pathology
2024

Health-related quality of life and associated risk factors in patients with Multiple Osteochondromas: a cross-sectional study.

Quality of life research : an international journal of quality of life aspects of treatment, care and rehabilitation
2024

Secondary peripheral chondrosarcoma in multiple osteochondromas: a retrospective single-institution case series.

Orphanet journal of rare diseases
2024

The Missing Piece of the Puzzle: Unveiling the Role of PTPN11 Gene in Multiple Osteochondromas in a Large Cohort Study.

Human mutation
2024

Rare coexistence of multiple osteochondromas and solitary osteoid osteoma: A case report.

Molecular and clinical oncology
2023

Chondrosarcoma secondary to hereditary multiple osteochondromas with spinal cord compression: A case report and systematic review.

Surgical neurology international
2024

Defining priorities in the transition from paediatric to adult healthcare for rare bone disease patients: a dialogic approach.

European journal of medical genetics
2024

Insights into pathogenesis, clinical complications and potential treatments of multiple osteochondromas in children: A case report.

Asian journal of surgery
2024

Long-term outcome of total hip arthroplasty in patients with multiple hereditary exostosis.

European journal of orthopaedic surgery &amp; traumatology : orthopedie traumatologie
2023

Multiple Distal Femoral Osteochondromas Encasing Popliteal Neurovascular Bundle.

Cureus
2023

Imaging of solitary and multiple osteochondromas: From head to toe - A review.

Clinical imaging
2023

The terminal period findings of late-diagnosed fibrodysplasia ossificans progressiva.

German medical science : GMS e-journal
2023

Rare retro-patellar multiple osteochondromas in patellar tendon: A case report.

Clinical case reports
2023

Chest wall osteochondroma resection with biologic acellular bovine dermal mesh reconstruction in pediatric hereditary multiple exostoses: A case report and review of literature.

World journal of clinical cases
2023

Advanced colon cancer coexisting with multiple Osteochondromatosis in a child; coincidence or causality? - A case report.

International journal of surgery case reports
2024

Is total-body MRI useful as a screening tool to rule out malignant progression in patients with multiple osteochondromas? Results in a single-center cohort of 319 adult patients.

Skeletal radiology
2023

Modified gradual ulnar lengthening for treatment of Masada type IIb forearm deformity in children with hereditary multiple osteochondromas.

Frontiers in pediatrics
2023

Phenotypic and Molecular Spectrum of a Turkish Cohort with Hereditary Multiple Osteochondromas.

Turkish archives of pediatrics
2023

Radiographic evaluation of ulnar deformity in patients with hereditary multiple osteochondroma and its relationship with radial head dislocation.

Orthopaedics &amp; traumatology, surgery &amp; research : OTSR
2023

Concurrent intraosseous cartilaginous lesions in patients with multiple osteochondromas identified on total-body MR imaging.

Skeletal radiology
2023

Millennium-old pathogenic Mendelian mutation discovery for multiple osteochondromas from a Gaelic Medieval graveyard.

European journal of human genetics : EJHG
2022

Clinical and Genetic Analysis of Multiple Osteochondromas in A Cohort of Argentine Patients.

Genes
2023

Reliability of the Masada Classification for Forearm Involvement in Patients With Hereditary Multiple Osteochondromas (HMO).

Journal of pediatric orthopedics
2022

Genetic analysis of seven pateints with Hereditary Multiple Osteochondromas (HMO).

American journal of translational research
2022

Remodeling an existing rare disease registry to be used in regulatory context: Lessons learned and recommendations.

Frontiers in pharmacology
2022

The natural history of fibrodysplasia ossificans progressiva: A prospective, global 36-month study.

Genetics in medicine : official journal of the American College of Medical Genetics
2022

Hemothorax caused by costal exostosis injuring diaphragm: a case report and literature review.

Journal of cardiothoracic surgery
2022

An Easy-to-Use Approach to Detect CNV From Targeted NGS Data: Identification of a Novel Pathogenic Variant in MO Disease.

Frontiers in endocrinology
2022

The Impact of Isolated Versus Multiple Osteochondromas: Analysis of the CoULD Registry.

Journal of pediatric orthopedics
2022

Real-World Data and Budget Impact Analysis (BIA): Evaluation of a Targeted Next-Generation Sequencing Diagnostic Approach in Two Orthopedic Rare Diseases.

Frontiers in pharmacology
2022

Hereditary multiple exostoses: A case report and literature review.

SAGE open medical case reports
2022

Solitary Phalangeal Osteochondroma in a 12-Year-Old.

Eplasty
2022

In Situ Hybridization of Feline Leukemia Virus in a Case of Osteochondromatosis.

Veterinary sciences
2022

Surgical outcomes of spinal osteochondroma in children: A multicentre observational study.

Orthopaedics &amp; traumatology, surgery &amp; research : OTSR
2022

Mutations in the heparan sulfate backbone elongating enzymes EXT1 and EXT2 have no major effect on endothelial glycocalyx and the glomerular filtration barrier.

Molecular genetics and genomics : MGG
2021

Hereditary Multiple Exostoses-A Review of the Molecular Background, Diagnostics, and Potential Therapeutic Strategies.

Frontiers in genetics
2021

Modified osteotomy for treatment of forearm deformities (Masada IIb) in hereditary multiple osteochondromas: a retrospective review.

BMC musculoskeletal disorders
2022

Subacromial osteochondroma and rotator cuff tear in a young adult with multiple osteochondromas.

JSES reviews, reports, and techniques
2021

The Rizzoli Multiple Osteochondromas Classification revised: describing the phenotype to improve clinical practice.

American journal of medical genetics. Part A
2021

Identification of a novel EXT2 frameshift mutation in a family with hereditary multiple exostoses by whole-exome sequencing.

Journal of clinical laboratory analysis
2021

Arthroscopic anterior cruciate ligament reconstruction in a patient with multiple hereditary exostoses.

Acta bio-medica : Atenei Parmensis
2021

Transitional care of adolescents with Multiple Osteochondromas: a convergent mixed-method study 'Patients', parents' and healthcare providers' perspectives on the transfer process'.

BMJ open
2021

Identification of Two Novel Frameshift Mutations in Exostosin 1 in Two Families with Multiple Osteochondromas.

Molecular syndromology
2021

Novel Mutations in Chinese Patients with Multiple Osteochondromas Identified Using Whole Exome Sequencing.

Genetic testing and molecular biomarkers
2021

Outcomes of Temporary Hemiepiphyseal Stapling for Correcting Genu Valgum in Children with Multiple Osteochondromas: A Single Institution Study.

Children (Basel, Switzerland)
2021

Multiple Osteochondromas Comorbid With Enlarged Parietal Foramina, Elongated Styloid Processes, and Tibiofibular Synostosis.

American journal of clinical pathology
2020

Solitary Osteochondroma of Posterior Elements of the Spine: A Rare Case Report.

Journal of orthopaedic case reports
2021

Mutation spectrum of EXT1 and EXT2 in the Saudi patients with hereditary multiple exostoses.

Orphanet journal of rare diseases
2020

Arthroscopic Anterior Cruciate Ligament Reconstruction in a Case of Multiple Osteochondromatosis: A Case Report.

Journal of orthopaedic case reports
2020

Segmental Fibulectomy to Excise the Adherent Distal Tibia Osteochondroma in a Case of Hereditary Multiple Exostosis - A Rare Case Report.

Journal of orthopaedic case reports
2021

Identification of Novel Mutations in the EXT1 and EXT2 Genes of Chinese Patients with Hereditary Multiple Osteochondromas.

Genetic testing and molecular biomarkers
2021

Diagnosis, Management, and Treatment Options: A Cervical Spine Osteochondroma Meta-Analysis.

World neurosurgery
2021

Hereditary multiple osteochondromas in Jordanian patients: Mutational and immunohistochemical analysis of EXT1 and EXT2 genes.

Oncology letters
2020

Popliteal artery entrapment syndrome secondary to a femoral osteochondroma.

La Tunisie medicale
2020

A rare case of hereditary multiple osteochondromas.

The Pan African medical journal
2020

EXT1 and EXT2 Variants in 22 Chinese Families With Multiple Osteochondromas: Seven New Variants and Potentiation of Preimplantation Genetic Testing and Prenatal Diagnosis.

Frontiers in genetics
2020

Gradual ulnar lengthening in Masada type I/IIb deformity in patients with hereditary multiple osteochondromas: a retrospective study with a mean follow-up of 4.2 years.

Journal of orthopaedic surgery and research
2020

Brachymetacarpia and Brachymetatarsia in Patients with Multiple Hereditary Exostosis.

Clinics in orthopedic surgery
2020

Foramen magnum osteochondroma causing myelopathy in a patient with hereditary multiple exostoses.

Surgical neurology international
2020

A Novel Nonsense Mutation in the EXT2 Gene Identified in a Family with Hereditary Multiple Osteochondromas.

Genetic testing and molecular biomarkers
2021

Correlation between mutated genes and forearm deformity in patients with multiple osteochondroma.

Journal of orthopaedic science : official journal of the Japanese Orthopaedic Association
2020

[Genetic analysis of five pedigrees affected with multiple osteochondromas].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
2020

The natural history of multiple osteochondromas in a large Italian cohort of pediatric patients.

Bone
2020

An unusual diagnosis for an usual test.

Italian journal of pediatrics
2020

De Novo SOX6 Variants Cause a Neurodevelopmental Syndrome Associated with ADHD, Craniosynostosis, and Osteochondromas.

American journal of human genetics
2020

Prospective spine at risk program for prevalence of intracanal spine lesions in pediatric hereditary multiple osteochondromas.

Spine deformity
2020

Identification of Novel EXT Mutations in Patients with Hereditary Multiple Exostoses Using Whole-Exome Sequencing.

Orthopaedic surgery
2020

Total knee arthroplasty with simultaneous tibial shaft osteotomy in patient with multiple hereditary osteochondromas and multiaxial limb deformity - a case report.

BMC musculoskeletal disorders
2020

Multiple hereditary exostoses and enchondromatosis.

Best practice &amp; research. Clinical rheumatology
2020

Clinical and Functional Outcomes of Ulnar Lengthening in the Treatment of Masada Type I Forearm Deformities in Hereditary Multiple Osteochondromas.

The Journal of hand surgery
2020

Multiple osteochondromas of the cervical spine, a potential cause of radiculopathy in the elderly: A case report and review of literature.

International journal of surgery case reports
2019

Spinal Screening MRI Trends in Patients with Multiple Hereditary Exostoses: National Survey.

Cureus
2019

Sarcomatous Transformation of Recurrent Scapular Osteochondroma in a Patient with the Hereditary Multiple Osteochondromas: A Case Report and Literature Review.

Cureus
2019

Hereditary Multiple Exostoses: Current Insights.

Orthopedic research and reviews
2020

Surgical Management of Thoracic Multiple Exostoses.

The Annals of thoracic surgery
2019

Anterior tibial artery occlusion post total knee arthroplasty: A case report.

Medicine
2019

Osteochondromatosis (multiple cartilaginous exostoses) in an immature killer whale Orcinus orca.

Diseases of aquatic organisms
2019

Fatigue and pain in children and adults with multiple osteochondromas in Norway, a cross-sectional study.

International journal of orthopaedic and trauma nursing
2019

Mutational spectrum and clinical signatures in 114 families with hereditary multiple osteochondromas: insights into molecular properties of selected exostosin variants.

Human molecular genetics
2018

Multiple Exostoses Syndrome and Basilar Artery Aneurysm: A Case Report.

Journal of vascular and interventional neurology
2019

Identification of a novel mutation in EXT2 in a fourth-generation Korean family with multiple osteochondromas and overview of mutation spectrum.

Annals of human genetics
2019

RNA-Seq detects a SAMD12-EXT1 fusion transcript and leads to the discovery of an EXT1 deletion in a child with multiple osteochondromas.

Molecular genetics &amp; genomic medicine
2018

Structural Features of Heparan Sulfate from Multiple Osteochondromas and Chondrosarcomas.

Molecules (Basel, Switzerland)
2018

Heterogeneous spectrum of EXT gene mutations in Chinese patients with hereditary multiple osteochondromas.

Medicine
2018

A novel EXT2 frameshift mutation identified in a family with multiple osteochondromas.

Oncology letters
2018

An extremely rare association of multiple familial trichoepitheliomas and hereditary multiple osteochondromas.

International journal of dermatology
2018

Effect of multiple hereditary exostoses on sports activity in children.

Journal of orthopaedics
2018

Osteochondroma of the Distal Clavicle: A Rare Cause of Impingement and Biceps Tear of the Shoulder.

Clinics in shoulder and elbow
2019

A Novel EXT1 Mutation Identified in a Family with Multiple Osteochondromas.

Genetic testing and molecular biomarkers
2018

Osteochondroma of ventral scapula associated with chest pain due to rib cage compression: A case report.

Medicine
2018

Ulnar Lengthening/Reconstruction of Interosseous Membrane in Treatment of Osteochondroma.

Journal of wrist surgery
2018

Osteochondromas of the Proximal Humerus. Diagnostic and Therapeutic Management.

Revista espanola de cirugia ortopedica y traumatologia (English ed.)
2018

Current paediatric orthopaedic practice in hereditary multiple osteochondromas of the forearm: a systematic review.

SICOT-J
2018

Signaling systems affecting the severity of multiple osteochondromas.

Bone
2018

Analysis of mutations in EXT1 and EXT2 in Brazilian patients with multiple osteochondromas.

Molecular genetics &amp; genomic medicine
2017

Chondrosarcoma in Metachondromatosis: A Rare Case Report.

Acta medica Iranica
2018

Hereditary multiple exostoses: are there new plausible treatment strategies?

Expert opinion on orphan drugs
2018

Palovarotene Inhibits Osteochondroma Formation in a Mouse Model of Multiple Hereditary Exostoses.

Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research
2018

Advances in the pathogenesis and possible treatments for multiple hereditary exostoses from the 2016 international MHE conference.

Connective tissue research
2017

Identification of mutations in EXT1 and EXT2 genes in six Chinese families with multiple osteochondromas.

Molecular medicine reports
2018

Retinoid roles and action in skeletal development and growth provide the rationale for an ongoing heterotopic ossification prevention trial.

Bone
2017

Hereditary multiple exostoses as a novel cause of bilateral popliteal artery aneurysms in the elderly.

Cardiovascular pathology : the official journal of the Society for Cardiovascular Pathology
2017

Targeted Next-Generation Sequencing Newly Identifies Mutations in Exostosin-1 and Exostosin-2 Genes of Patients with Multiple Osteochondromas.

The Tohoku journal of experimental medicine
2017

Buttock Pain and Sciatica Caused by a Femoral Osteochondroma.

The Journal of orthopaedic and sports physical therapy
2017

Hereditary Multiple Exostoses: New Insights into Pathogenesis, Clinical Complications, and Potential Treatments.

Current osteoporosis reports
2017

Autologous Fat Grafting as a Last Resort for Unsustainable Pain in a Woman with Multiple Osteochondromas.

Archives of plastic surgery
2018

Treatment of forearm deformity with radial head dislocation because of multiple osteochondromas: a series of three cases treated by simple axis correction and distraction osteogenesis of the ulna.

Journal of pediatric orthopedics. Part B
2017

Multiple osteochondromas of the antlers and cranium in a free-ranging white-tailed deer (Odocoileus virginianus).

PloS one
2017

Deep peroneal nerve palsy due to osteochondroma arising from fibular head and proximal lateral tibia.

International journal of surgery case reports
2017

Daughter and mother diagnosed with hereditary multiple exostoses: A case report and a review of the literature.

Medicine
2017

Identification of a new mutation in an Iranian family with hereditary multiple osteochondromas.

Therapeutics and clinical risk management
2017

Identification of a novel mutation in the EXT1 gene from a patient with multiple osteochondromas by exome sequencing.

Molecular medicine reports
2016

Bilateral sandwiched scapulae: A rare presentation of hereditary multiple exostoses.

Journal of clinical orthopaedics and trauma
2018

Differential diagnosis of a neoplastic condition in a prehistoric juvenile individual from La Falda site, Northwest Argentina.

International journal of paleopathology
2016

Trichorhinophalangeal syndrome type II presenting with short stature in a child.

Archivos argentinos de pediatria
2016

Novel mutation of EXT2 identified in a large family with multiple osteochondromas.

Molecular medicine reports
2017

Familial solitary chondrosarcoma resulting from germline EXT2 mutation.

Genes, chromosomes &amp; cancer
2016

Multiple osteochondromas (MO) in the forearm: a 12-year single-centre experience.

Strategies in trauma and limb reconstruction
2016

Ulnar Distraction Osteogenesis in the Treatment of Forearm Deformities in Children With Multiple Hereditary Exostoses.

The Journal of hand surgery
2016

[Langer-Giedion syndrome with 8q23.1-q24.12 deletion diagnosed by comparative genomic hybridization].

Archivos argentinos de pediatria
2016

Metachondromatosis without Enchondromas: A Case Report and Review of the Literature.

JBJS case connector
2016

Large-scale mutational analysis in the EXT1 and EXT2 genes for Japanese patients with multiple osteochondromas.

BMC genetics
2016

Deletion of exon 8 from the EXT1 gene causes multiple osteochondromas (MO) in a family with three affected members.

SpringerPlus
2016

Multidetector computed tomography in the evaluation of hereditary multiple exostoses.

European journal of radiology
2016

Multiple Hereditary Exostoses.

Radiologic technology
2015

Genetic screening of EXT1 and EXT2 in Cypriot families with hereditary multiple osteochondromas.

Journal of genetics
2015

Identification of a rare case of intra-articular osteochondroma manifesting as three loose bodies in a patient with hereditary multiple osteochondromas: A case report.

Oncology letters
2015

A patient with novel mutations causing MEN1 and hereditary multiple osteochondroma.

Endocrinology, diabetes &amp; metabolism case reports
2015

Skeletal maturity of children with multiple osteochondromas: is diminished stature due to a systemic influence?

Journal of children's orthopaedics
2015

Spinal cord stimulation for treatment of the pain associated with hereditary multiple osteochondromas.

Journal of pain research
2016

(99m)Tc-MDP bone scintigraphy of three brothers affected by Multiple Osteochondromas.

Revista espanola de medicina nuclear e imagen molecular
2015

[Osteochondroma in children and adolescents].

Arkhiv patologii
2015

Disclosing the Hidden Structure and Underlying Mutational Mechanism of a Novel Type of Duplication CNV Responsible for Hereditary Multiple Osteochondromas.

Human mutation
2015

Somatic loss of an EXT2 gene mutation during malignant progression in a patient with hereditary multiple osteochondromas.

Cancer genetics
2015

Multiple osteocartilaginous exostoses of the lower extremity: a case report.

Foot (Edinburgh, Scotland)
2015

Central chondrosarcoma in patients with multiple osteochondromas: commentary on an article by Annemarie L. Goud, MD, PhD, et al: "Intraosseous atypical chondroid tumor or chondrosarcoma grade 1 in patients with multiple osteochondromas".

The Journal of bone and joint surgery. American volume
2015

Intraosseous atypical chondroid tumor or chondrosarcoma grade 1 in patients with multiple osteochondromas.

The Journal of bone and joint surgery. American volume
2014

Cervical myelopathy caused by disc herniation at the segment of existing osteochondroma in a patient with hereditary multiple exostoses.

Asian spine journal

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Doenças relacionadas

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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. Robot-assisted resection of a large intrathoracic osteochondroma originating from the third rib in the context of hereditary multiple osteochondroma syndrome.
    Multimedia manual of cardiothoracic surgery : MMCTS· 2026· PMID 41859986mais citado
  2. Radiographic outcomes of a treatment approach for lower leg deformities in patients with hereditary multiple exostoses.
    Journal of pediatric orthopedics. Part B· 2026· PMID 41766296mais citado
  3. A Complex Case of Langer-Giedion Syndrome, Cornelia de Lange Syndrome Type 4, and Hereditary Multiple Osteochondromas with Mosaic 8q23.1-q24.12 Deletion.
    Genes· 2026· PMID 41751561mais citado
  4. Arthroscopic Anterior Cruciate Ligament Reconstruction in a 17-Year-Old Female Athlete with Multiple Hereditary Exostoses Using a Peroneus Longus Autograft: A Rare Case Report.
    Journal of orthopaedic case reports· 2026· PMID 41669056mais citado
  5. Mycotic popliteal artery aneurysm due to exostosis treated by excision and bypass.
    Journal of vascular surgery cases and innovative techniques· 2026· PMID 41567139mais citado
  6. High-Resolution Genomic Characterization of WAGR Spectrum Disorder: Insights From a Novel Cohort and Literature Synthesis, and Validation of Patient-Reported Data.
    Am J Med Genet A· 2026· PMID 41968606recente
  7. Assessment of radiological and clinical follow-up strategies for intrathoracic osteochondromas in hereditary multiple osteochondromas patients.
    Jt Dis Relat Surg· 2026· PMID 41906835recente
  8. Commentary on A Diagnostic Odyssey in a Family with Multiple Osteochondromas.
    J Appl Lab Med· 2026· PMID 41894484recente
  9. A Diagnostic Odyssey in a Family with Multiple Osteochondromas.
    J Appl Lab Med· 2026· PMID 41894479recente
  10. Biallelic inactivation of EXT1 in patient-derived iPSCs confirms the "Two-hit" hypothesis in hereditary multiple osteochondromas.
    Biosci Trends· 2026· PMID 41882878recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:321(Orphanet)
  2. MONDO:0005508(MONDO)
  3. GARD:7035(GARD (NIH))
  4. Variantes catalogadas(ClinVar)
  5. Busca completa no PubMed(PubMed)
  6. Artigo Wikipedia(Wikipedia)
  7. Q1952467(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

Osteocondromas múltiplos
Compêndio · Raras BR

Osteocondromas múltiplos

ORPHA:321 · MONDO:0005508
Prevalência
>1 / 1000
Herança
Autosomal dominant
CID-10
Q78.6 · Exostoses congênitas múltiplas
CID-11
Ensaios
2 ativos
Início
Childhood
Prevalência
100.0 (Specific population)
MedGen
UMLS
C0015306
EuropePMC
Wikidata
Wikipedia
Papers 10a
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