Melorreostose é uma doença rara do tecido conjuntivo, caracterizada por uma alteração óssea que causa o endurecimento e o crescimento anormal dos ossos. Geralmente limitada a um lado do corpo (raramente bilateral), que se manifesta com dor, rigidez, encurtamento das articulações e deformidades.
Introdução
O que você precisa saber de cara
Melorreostose é uma doença rara do tecido conjuntivo, caracterizada por uma alteração óssea que causa o endurecimento e o crescimento anormal dos ossos. Geralmente limitada a um lado do corpo (raramente bilateral), que se manifesta com dor, rigidez, encurtamento das articulações e deformidades.
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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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
+ 8 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 20 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
1 gene identificado com associação a esta condição. Padrão de herança: Not applicable.
Dual specificity protein kinase which acts as an essential component of the MAP kinase signal transduction pathway. Binding of extracellular ligands such as growth factors, cytokines and hormones to their cell-surface receptors activates RAS and this initiates RAF1 activation. RAF1 then further activates the dual-specificity protein kinases MAP2K1/MEK1 and MAP2K2/MEK2. Both MAP2K1/MEK1 and MAP2K2/MEK2 function specifically in the MAPK/ERK cascade, and catalyze the concomitant phosphorylation of
Cytoplasm, cytoskeleton, microtubule organizing center, centrosomeCytoplasm, cytoskeleton, microtubule organizing center, spindle pole bodyCytoplasmNucleusMembrane
Cardiofaciocutaneous syndrome 3
A form of cardiofaciocutaneous syndrome, a multiple congenital anomaly disorder characterized by a distinctive facial appearance, heart defects and intellectual disability. Heart defects include pulmonic stenosis, atrial septal defects and hypertrophic cardiomyopathy. Some affected individuals present with ectodermal abnormalities such as sparse, friable hair, hyperkeratotic skin lesions and a generalized ichthyosis-like condition. Typical facial features are similar to Noonan syndrome. They include high forehead with bitemporal constriction, hypoplastic supraorbital ridges, downslanting palpebral fissures, a depressed nasal bridge, and posteriorly angulated ears with prominent helices. Distinctive features of CFC3 include macrostomia and horizontal shape of palpebral fissures.
Variantes genéticas (ClinVar)
156 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 40 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
15 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 — Melorreostose
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
Ensaios em destaque
Pesquisa e ensaios clínicos
3 ensaios clínicos encontrados, 1 ativos.
Publicações mais relevantes
Cervical spinal melorheostosis causing myelopathy: a rare case and review of the literature.
Melorheostosis is a progressive sclerosing bone dysplasia that rarely involves the spine. When spinal involvement occurs, it can lead to significant neurological compromise due to spinal cord compression. We report the case of a previously healthy 22-year-old woman who presented with progressive gait instability and upper motor neuron symptoms secondary to a hyperostotic lesion extending from C2 to C5. Imaging demonstrated severe left-sided spinal canal stenosis, prompting urgent surgical decompression with posterior cervical fusion. Intraoperative neuromonitoring showed complete loss of all sensory and motor potentials from the left side following decompression. Accordingly, she woke up with complete hemiplegia; however, rapid improvement was noted over the following days. Through analysis of 25 documented cases, we highlight the variability in anatomical involvement, clinical presentation, and management strategies. This report underscores the importance of an individually tailored surgical intervention and contributes to the scarce literature on cervical spinal melorheostosis.
Combined Melorheostosis and Osteopoikilosis: Uncommon Presentation with Sciatic Nerve Neuropathy: A Case Report.
A 27-year-old man presented with an 8-year history of chronic right gluteal and posterior thigh pain, worsened by sitting and unresponsive to conservative treatment. Imaging revealed widespread melorheostosis and osteopoikilosis of the right lower extremity, with 2 gluteal soft tissue masses compressing the sciatic nerve. The masses were excised using a dual surgical approach, achieving successful sciatic nerve decompression. Postoperatively, the patient regained normal sitting and sleeping tolerance, with complete pain relief maintained over a 15-month follow-up. Melorheostosis, a rare sclerosing bone disorder sometimes associated with osteopoikilosis, may require surgery when large lesions cause nerve compression.
Wrist and Hand Melorheostosis: Case Report With Surgical Consideration.
Melorheostosis is a rare, sporadic, benign bone disorder with an unclear cause. We present a case report of a 34-year-old man with chronic deformity secondary to melorheostosis. He complained of deformity and limited range of motion affecting his functionality. Surgical debulking of the sclerotic lesion was performed. The clinical outcome was satisfactory with no signs of recurrence at 9-months follow-up.
Progress towards drug treatment for melorheostosis.
Developing a standard dataset in the European registries for rare endocrine and bone conditions-a Melorheostosis dataset.
Melorheostosis is a rare skeletal and connective tissue disorder with the estimated prevalence of 1/1,100,000. Low prevalence of rare diseases (RDs) can lead to suboptimal knowledge and expertise among clinicians. The European Registries for Rare Endocrine and Bone Conditions (EuRREB) facilitates collection of a set of Core Data Elements and a specific dataset within the 'condition specific module' of the Core Registry platform. The Rare Bone Disease Action Group of the European Calcified Tissue Society (ECTS) collaborated with ERN BOND to develop a specific dataset for Melorheostosis. An initial dataset was shortened to 44 unique variables. In January 2023, the Melorheostosis condition specific module was published and now consists of 18 patients from 2 countries. The median age of patients was 49 years old (range 23-82) and female to male ratio was 15:3 (83.3%). Family history of Melorheostosis was negative for all patients. The most affected bones were lower limbs in 12 cases (66.7%). Specifically, spine, feet and ribs were involved each in 2 cases (11%), skull and pelvis-in one patient each (5.5%). Two patients (11%) suffered from more than 1 lesion. Hyperostosis was present in 3 patients (16.7%), skeletal deformity-in 6 (33%), joint stiffness - in 11 (61%), asymmetry-in 16 (88.9%), joint limitation-in 12 (66.7%) patients. Swelling and muscle atrophy were reported in 1 case each (5.5%), vascular abnormalities-in 2 cases (11%), skin abnormality in 1 case (5.5%). Pain was present in 14 from 18 patients (77.8%). Genetic testing was performed in 5 patients (27.7%). A condition specific module, for Melorheostosis, within an established registry has been developed. This will serve a useful resource to inform clinicians about this rare disease, and can support several healthcare initiatives such as guidelines creation and healthcare improvement strategies.
Publicações recentes
A case report and literature review of pediatric multifocal melorheostosis in a unilateral limb.
Cervical spinal melorheostosis causing myelopathy: a rare case and review of the literature.
Progress towards drug treatment for melorheostosis.
Double crushing weakness of the right hand: A case report with coexistence melorheostosis and cerebral palsy.
Delayed Diagnosis of a Rare Case of Melorheostosis Affecting Both Upper Limbs.
📚 EuropePMC449 artigos no totalmostrando 128
Cervical spinal melorheostosis causing myelopathy: a rare case and review of the literature.
Journal of surgical case reportsProgress towards drug treatment for melorheostosis.
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral ResearchDouble crushing weakness of the right hand: A case report with coexistence melorheostosis and cerebral palsy.
Turkish journal of physical medicine and rehabilitationDelayed Diagnosis of a Rare Case of Melorheostosis Affecting Both Upper Limbs.
CureusCombined Melorheostosis and Osteopoikilosis: Uncommon Presentation with Sciatic Nerve Neuropathy: A Case Report.
JBJS case connectorWrist and Hand Melorheostosis: Case Report With Surgical Consideration.
Journal of hand surgery global onlineThe melorheostosis with severe knee and ankle deformity treated by total knee arthroplasty with V-Y quadricepsplasty: a case report and literature review.
BMC musculoskeletal disordersCDK4 inhibition reduces proliferation and mineralization in MAP2K1+ melorheostosis: opening a pathway to treatment.
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral ResearchMelorheostosis with Extraosseous Extension Mimicking a Cartilaginous Tumor: A Case Report.
Journal of the Belgian Society of RadiologyMelorheostosis of the Hip: A Case Report.
CureusMelorheostosis: Clinical, radiological, and histopathological features with a literature review.
Physiological reportsMelorheostosis: A Rare Case Report with Pelvic and Lumbar Involvement.
Journal of orthopaedic case reportsDeveloping a standard dataset in the European registries for rare endocrine and bone conditions-a Melorheostosis dataset.
Orphanet journal of rare diseasesManagement of a case of melorheostosis deformity and pain with intramedullary nailing.
European journal of medical geneticsMelorheostosis: A Systematic Review of Clinical Manifestations, Diagnostic Challenges, Therapeutic Strategies, and Physiotherapeutic Interventions.
CureusMelorheostosis: Two Case Reports and Review of Current Literature.
Journal of orthopaedic case reportsCombined Axial and Peripheral Melorheostosis in a Young Boy: A Unique Case.
Current rheumatology reviewsCalvarial melorheostosis: an extremely rare case and diagnostic challenge.
Skeletal radiologySclerosing bone dysplasias: a pictorial essay.
Radiologia brasileiraUnraveling melorheostosis: insights into clinical features, diagnosis, and treatment.
JBMR plusA rare case of monostotic Melorheostosis of right ulna presenting with chronic forearm pain - Case report.
International journal of surgery case reportsSurgical treatment of progressive melorheostosis worsening over 19 years: A case report.
The KneeMelorheostosis Involving the Hip Joint.
Journal of the Belgian Society of RadiologyClinical report of metacarpal melorheostosis: a rare disease with "the dripping candle wax" appearance on different imaging modalities.
Oxford medical case reportsArthroscopic Management of Melorheostosis-Induced Ankle Deformity: A Case Report.
CureusMelorheostosis of the cervical and cervicothoracic spine: review of the literature and presentation of 3 new cases.
Archives of orthopaedic and trauma surgeryMelorheostosis (Leri's Disease): A Review.
Cureus[Melorheostosis: a rare osteopathy].
La Revue du praticienMelorheostosis With Uniform Rib Thickening.
Clinical nuclear medicineA focus on melorheostosis disease: a literature review and case report of femoral-acetabular impingement due to melorheostosis treated with surgical hip osteoplasty.
ReumatismoMelorheostosis: A rare disease of the bone.
International journal of rheumatic diseasesLate-Onset Melorheostosis: A Case Report.
Case reports in oncologyAneurysmal bone cyst-like changes developed in melorheostosis with epiphyseal osteopoikilosis.
Skeletal radiologyMelorheostosis: A Pediatric Case of a Rare Association With Carpal Tunnel Syndrome.
CureusClassic "dripping candle wax" pattern in melorheostosis.
Arthritis & rheumatology (Hoboken, N.J.)VEGF Secretion Drives Bone Formation in Classical MAP2K1+ Melorheostosis.
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral ResearchSpinal Melorheostosis: A Rare Presentation.
JBJS case connectorThe periosteal "dripping candle wax" sign: Classic melorheostosis.
Joint bone spineA Rare Case of Melorheostosis Presenting with Extra-osseous Lesions Around the Knee: Case Report.
Journal of orthopaedic case reportsMelorheostosis: A Review of the Literature and a Case Report.
Medicina (Kaunas, Lithuania)Buschke-Ollendorff Syndrome: A Rare Cause of Unilateral Genu Valgum.
CureusMelorheostosis - a rare and progressive disease.
The Pan African medical journalSpinal Melorheostosis Associated with Intradural Fibrous Band and Extensive Lipomatosis Causing Thoracic Cord Tethering and Myelomalacia: A Unique Case Highlighting Importance of MRI in Management.
The Indian journal of radiology & imagingClinical characteristics of 10 Chinese patients with melorheostosis and identification of a somatic MAP2K1 variant in one case.
Molecular genetics & genomic medicineMiddle-Aged Male With Melorheostosis.
Mayo Clinic proceedingsSMAD3 mutation in LDS3 causes bone fragility by impairing the TGF-β pathway and enhancing osteoclastogenesis.
Bone reportsMelorheostosis or "Dripping Candle Wax" Bone Disease.
The Journal of rheumatologyBuschke-Ollendorff syndrome presenting with asymptomatic yellowish papules and leg length discrepancy: A case report.
Journal of musculoskeletal & neuronal interactionsBisphosphonate Therapy in the Management of Symptomatic Melorheostosis of Tibia.
Journal of orthopaedic case reportsOccupational engagement, fatigue, and upper and lower extremity abilities in persons with melorheostosis.
PM & R : the journal of injury, function, and rehabilitationA case of spinal melorheostosis.
Journal of clinical imaging scienceFibroblasts from Patients with Melorheostosis Promote Angiogenesis in Healthy Endothelial Cells through Secreted Factors.
The Journal of investigative dermatology[Melorheostosis - a benign entity mimicking malignant bone tumor in young adults].
RoFo : Fortschritte auf dem Gebiete der Rontgenstrahlen und der NuklearmedizinOsteoblast Dysfunction in Non-Hereditary Sclerosing Bone Diseases.
International journal of molecular sciencesMelorheostosis of the Fossa Intercondylaris Femoris - A Case Report and Review of the Literature.
Journal of orthopaedic case reportsCase Report of Osteopoikilosis: Sparse Cause of Bone Pain and Mimicker of Metastasis on Radiographs.
Journal of orthopaedic case reportsKRAS mutation identified in a patient with melorheostosis and extended lymphangiomatosis treated with sirolimus and trametinib.
Clinical geneticsDripping Wax Bone Disease - Melorheostosis - A Rare Case Scenario.
Journal of orthopaedic case reportsCross-Sectional Imaging Useful in Melorheostosis.
JBMR plusMeralgia Paresthetica Caused by Melorheostosis Affecting the Ipsilateral Ilium: A Case Report.
JBJS case connectorA rare case of melorheostosis with intra-articular extension causing medial patellar impingement.
The Indian journal of radiology & imagingOpen Excision of Olecranon Melorheostosis to Relieve Elbow Extension Block.
The Journal of hand surgeryA Highly Unusual Clinical Presentation and Imaging Appearance of a Rare Diseases: Melorheostosis.
Journal of orthopaedic case reportsMelorheostosis: Dripping candle wax disease.
The Indian journal of medical researchAxial melorheostosis: A rare presentation.
Radiology case reportsThe dripping candle wax sign of melorheostosis.
SAGE open medical case reportsDistribution and Functional Consequences of Somatic MAP2K1 Variants in Affected Skin Associated with Bone Lesions in Melorheostosis.
The Journal of investigative dermatologyA systematic review of the clinical and radiographic features of hybrid central giant cell granuloma lesions of the jaws.
Acta odontologica ScandinavicaCase of melorheostosis associated with ipsilateral verrucous epidermal nevus, linear connective tissue nevus, diffuse hyperpigmentation and hypertrichosis: A fortuitous coincidence?
The Journal of dermatologyA Rare Case of Melorheostosis in the Hand of a Saudi Woman.
CureusMonostotic melorheostosis and trigger finger.
Acta reumatologica portuguesaA multi-omics approach expands the mutational spectrum of MAP2K1-related melorheostosis.
BoneSpinal Melorheostosis: A Rare Cause for Thoracic Radiculopathy.
International journal of spine surgeryHide and seek: Somatic SMAD3 mutations in melorheostosis.
The Journal of experimental medicineSomatic SMAD3-activating mutations cause melorheostosis by up-regulating the TGF-β/SMAD pathway.
The Journal of experimental medicineMelorheostosis of upper limb: A report of four rare cases.
Journal of clinical orthopaedics and traumaBone Features of Unaffected Skeletal Sites in Melorheostosis: A Case Report.
Journal of clinical densitometry : the official journal of the International Society for Clinical DensitometryRe: Osteoma-like melorheostosis: a rare type of skeletal dysplasia depicted on FDG PET/CT.
Skeletal radiologyConstitutive activation of MEK1 in osteoprogenitors increases strength of bone despite impairing mineralization.
BoneA rare case of melorheostosis of the hand in a pediatric patient.
Journal of orthopaedicsClinical Evaluation of Melorheostosis in the Context of a Natural History Clinical Study.
JBMR plusRare and unusual bone dysplasia.
Journal of clinical pathologyMelorheostosis: A Clinical, Pathologic, and Radiologic Case Series.
The American journal of surgical pathologyMelorheostosis and Osteopoikilosis Clinical and Molecular Description of an Italian Case Series.
Calcified tissue internationalMelorheostosis in the pediatric hand.
Clinical case reportsMelorheostosis Causing Compression of Common Peroneal Nerve at Fibular Tunnel.
World neurosurgeryMelorheostosis and Osteopoikilosis: A Review of Clinical Features and Pathogenesis.
Calcified tissue internationalMelorheostosis: a rare sclerosing bone dysplasia. Usefulness of bone scintigraphy.
Revista espanola de medicina nuclear e imagen molecularMelorheostosis with an associated para-articular enhancing soft tissue mass.
Clinical imagingOsteoma-like melorheostosis: a rare type of skeletal dysplasia depicted on FDG PET/CT.
Skeletal radiologyMelorheostotic Bone Lesions Caused by Somatic Mutations in MAP2K1 Have Deteriorated Microarchitecture and Periosteal Reaction.
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral ResearchMelorheostosis of The Leg: A Case Report.
Journal of radiology case reportsMelorheostosis in an Adolescent with Limb Length Discrepancy and Management with Epiphysiodesis with Eight Plates.
Journal of orthopaedic case reportsStructural basis for receptor-regulated SMAD recognition by MAN1.
Nucleic acids researchDebridement arthroplasty of a rare case of elbow stiffness. A case report and literature review.
International journal of surgery case reportsClinical improvement in a patient with monostotic melorheostosis after treatment with denosumab: a case report.
Journal of medical case reportsCT analysis of anatomical distribution of melorheostosis challenges the sclerotome hypothesis.
BoneDistinct Clinical and Pathological Features of Melorheostosis Associated With Somatic MAP2K1 Mutations.
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral ResearchHuman Genetics of Sclerosing Bone Disorders.
Current osteoporosis reportsSomatic activating mutations in MAP2K1 cause melorheostosis.
Nature communicationsManaging Recurrence in Intraarticular Melorheostosis Involving the Knee Joint: A Case Report.
Journal of orthopaedic case reportsA Unique Case of Melorheostosis Presenting with Two Radiologically Distinct Lesions in the Shoulder.
Case reports in orthopedicsArthritis in Melorheostosis-An Uncommon Feature in a Rare Disease.
Arthritis & rheumatology (Hoboken, N.J.)Melorheostosis: a Rare Sclerosing Bone Dysplasia.
Current osteoporosis reportsMelorheostosis-Foot and ankle perspective.
Foot (Edinburgh, Scotland)Melorheostosis: Exome sequencing of an associated dermatosis implicates postzygotic mosaicism of mutated KRAS.
Bone18F-NaF PET/CT in Extensive Melorheostosis of the Axial and Appendicular Skeleton With Soft-Tissue Involvement.
Clinical nuclear medicinePaget's bone disease is not always the culprit.
European journal of internal medicineMelorheostosis with recurrent soft-tissue components: a histologically confirmed case.
Skeletal radiologyPoster 442 Intractable Pelvic Pain Due to Melorheostosis Managed with Spinal Cord Stimulation: A Case Report.
PM & R : the journal of injury, function, and rehabilitationMelorheostosis: A Retrospective Clinical Analysis of 24 Patients at the Mayo Clinic.
PM & R : the journal of injury, function, and rehabilitationMelorheostosis of the Foot: A Case Report of A rare entity with a Review of Multimodality Imaging Emphasizing the Importance of Conventional Radiography in Diagnosis.
Journal of orthopaedic case reportsDetection of melorheostosis in a young lady with upper limb pain on Three Phase Bone Scintigram/SPECT-CT.
Clinical cases in mineral and bone metabolism : the official journal of the Italian Society of Osteoporosis, Mineral Metabolism, and Skeletal DiseasesPelvic Pain Due to Ischial Tuberosity and Acetabular Melorheostosis-Multimodal Image Presentation.
PM & R : the journal of injury, function, and rehabilitationCharacterization of hypertrophic osteoarthropathy in an identified skeleton from Évora, Portugal, using combined and comparative morphology and microscopy.
International journal of paleopathologySclerosing bone dysplasias: genetic, clinical and radiology update of hereditary and non-hereditary disorders.
The British journal of radiologyA skeletal case of hypertrophic osteoarthropathy from the Canary Islands dating from 1000 BP.
International journal of paleopathologyNovel Somatic Mutation in LEMD3 Splice Site Results in Buschke-Ollendorff Syndrome with Polyostotic Melorheostosis and Osteopoikilosis.
Pediatric dermatologyMelorheostosis mimicking synovial osteochondromatosis.
Annals of Saudi medicineVascular Malformations Corresponding to Sclerotomes in Multifocal Melorheostosis: Painful Hip and Knee Contractures Treated with Total Joint Arthroplasty.
JBJS case connector[X-ray performance of melorheostosis in right foot:report of one case].
Zhongguo gu shang = China journal of orthopaedics and traumatologyMelorheostosis of the spine and ribs.
The spine journal : official journal of the North American Spine SocietyCorrelative bone imaging in a case of Schnitzler's syndrome and brief review of the literature.
Hellenic journal of nuclear medicineVascular Malformations Corresponding to Sclerotomes in Multifocal Melorheostosis: Painful Hip and Knee Contractures Treated with Total Joint Arthroplasty: A Case Report.
JBJS case connectorArthroscopic findings in melorheostosis.
Journal of clinical rheumatology : practical reports on rheumatic & musculoskeletal diseasesMelorheostosis involving the hand.
Joint bone spineIncidentally diagnosed melorheostosis of upper limb: case report.
BMC musculoskeletal disordersMelorheostosis: segmental osteopoikilosis or a separate entity?
Journal of pediatric orthopedicsAssociações
Organizações que acompanham esta doença — pra ter apoio e orientação
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Comunidades
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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.
- Cervical spinal melorheostosis causing myelopathy: a rare case and review of the literature.
- Combined Melorheostosis and Osteopoikilosis: Uncommon Presentation with Sciatic Nerve Neuropathy: A Case Report.
- Wrist and Hand Melorheostosis: Case Report With Surgical Consideration.
- Progress towards drug treatment for melorheostosis.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research· 2026· PMID 41804784mais citado
- Developing a standard dataset in the European registries for rare endocrine and bone conditions-a Melorheostosis dataset.
- A case report and literature review of pediatric multifocal melorheostosis in a unilateral limb.
- Double crushing weakness of the right hand: A case report with coexistence melorheostosis and cerebral palsy.
- Delayed Diagnosis of a Rare Case of Melorheostosis Affecting Both Upper Limbs.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:2485(Orphanet)
- OMIM OMIM:155950(OMIM)
- MONDO:0007970(MONDO)
- GARD:9474(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Q1127727(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
