A síndrome de osteogênese imperfeita-retinopatia-convulsões-deficiência intelectual é caracterizada por osteogênese imperfeita, ossos wormianos, atrofia óptica, retinopatia, convulsões e atraso grave no desenvolvimento. Foi descrito em dois irmãos nascidos de pais consangüíneos.
Introdução
O que você precisa saber de cara
A síndrome de osteogênese imperfeita-retinopatia-convulsões-deficiência intelectual é caracterizada por osteogênese imperfeita, ossos wormianos, atrofia óptica, retinopatia, convulsões e atraso grave no desenvolvimento. Foi descrito em dois irmãos nascidos de pais consangüíneos.
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
+ 1 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 8 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
Nenhum gene associado encontrado
Os dados genéticos desta condição ainda estão sendo catalogados.
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 — Síndrome de osteogênese imperfeita-retinopatia-convulsões-perturbação do desenvolvimento intelectual
Centros de Referência SUS
37 centros habilitados pelo SUS para Síndrome de osteogênese imperfeita-retinopatia-convulsões-perturbação do desenvolvimento intelectual
Centros para Síndrome de osteogênese imperfeita-retinopatia-convulsões-perturbação do desenvolvimento intelectual
Detalhes dos centros
Hospital Universitário Prof. Edgard Santos (HUPES)
R. Dr. Augusto Viana, s/n - Canela, Salvador - BA, 40110-060 · CNES 0003808
Serviço de Referência
Hospital Infantil Albert Sabin
R. Tertuliano Sales, 544 - Vila União, Fortaleza - CE, 60410-794 · CNES 2407876
Serviço de Referência
Hospital Infantil Albert Sabin
R. Tertuliano Sales, 544 - Vila União, Fortaleza - CE, 60410-794 · CNES 2407876
Serviço de Referência
Hospital de Apoio de Brasília (HAB)
AENW 3 Lote A Setor Noroeste - Plano Piloto, Brasília - DF, 70684-831 · CNES 0010456
Serviço de Referência
Hospital de Apoio de Brasília (HAB)
AENW 3 Lote A Setor Noroeste - Plano Piloto, Brasília - DF, 70684-831 · CNES 0010456
Serviço de Referência
Hospital Estadual Infantil e Maternidade Alzir Bernardino Alves (HIABA)
Av. Min. Salgado Filho, 918 - Soteco, Vila Velha - ES, 29106-010 · CNES 6631207
Serviço de Referência
Hospital Estadual Infantil e Maternidade Alzir Bernardino Alves (HIABA)
Av. Min. Salgado Filho, 918 - Soteco, Vila Velha - ES, 29106-010 · CNES 6631207
Serviço de Referência
Hospital das Clínicas da UFG
Rua 235 QD. 68 Lote Área, Nº 285, s/nº - Setor Leste Universitário, Goiânia - GO, 74605-050 · CNES 2338424
Serviço de Referência
Hospital Universitário da UFJF
R. Catulo Breviglieri, Bairro - s/n - Santa Catarina, Juiz de Fora - MG, 36036-110 · CNES 2297442
Atenção Especializada
Hospital das Clínicas da UFMG
Av. Prof. Alfredo Balena, 110 - Santa Efigênia, Belo Horizonte - MG, 30130-100 · CNES 2280167
Serviço de Referência
Hospital das Clínicas da UFMG
Av. Prof. Alfredo Balena, 110 - Santa Efigênia, Belo Horizonte - MG, 30130-100 · CNES 2280167
Serviço de Referência
Hospital Universitário Julio Müller (HUJM)
R. Luis Philippe Pereira Leite, s/n - Alvorada, Cuiabá - MT, 78048-902 · CNES 2726092
Atenção Especializada
Hospital Universitário João de Barros Barreto
R. dos Mundurucus, 4487 - Guamá, Belém - PA, 66073-000 · CNES 2337878
Serviço de Referência
Hospital Universitário João de Barros Barreto
R. dos Mundurucus, 4487 - Guamá, Belém - PA, 66073-000 · CNES 2337878
Serviço de Referência
Hospital Universitário Lauro Wanderley (HULW)
R. Tabeliao Estanislau Eloy, 585 - Castelo Branco, João Pessoa - PB, 58050-585 · CNES 0002470
Atenção Especializada
Instituto de Medicina Integral Prof. Fernando Figueira (IMIP)
R. dos Coelhos, 300 - Boa Vista, Recife - PE, 50070-902 · CNES 0000647
Serviço de Referência
Instituto de Medicina Integral Prof. Fernando Figueira (IMIP)
R. dos Coelhos, 300 - Boa Vista, Recife - PE, 50070-902 · CNES 0000647
Serviço de Referência
Hospital Pequeno Príncipe
R. Des. Motta, 1070 - Água Verde, Curitiba - PR, 80250-060 · CNES 3143805
Serviço de Referência
Hospital Pequeno Príncipe
R. Des. Motta, 1070 - Água Verde, Curitiba - PR, 80250-060 · CNES 3143805
Serviço de Referência
Hospital Universitário Regional de Maringá (HUM)
Av. Mandacaru, 1590 - Parque das Laranjeiras, Maringá - PR, 87083-240 · CNES 2216108
Atenção Especializada
Hospital de Clínicas da UFPR
R. Gen. Carneiro, 181 - Alto da Glória, Curitiba - PR, 80060-900 · CNES 2364980
Serviço de Referência
Hospital de Clínicas da UFPR
R. Gen. Carneiro, 181 - Alto da Glória, Curitiba - PR, 80060-900 · CNES 2364980
Serviço de Referência
Hospital Universitário Pedro Ernesto (HUPE-UERJ)
Blvd. 28 de Setembro, 77 - Vila Isabel, Rio de Janeiro - RJ, 20551-030 · CNES 2280221
Serviço de Referência
Instituto Nacional de Saúde da Mulher, da Criança e do Adolescente Fernandes Figueira (IFF/Fiocruz)
Av. Rui Barbosa, 716 - Flamengo, Rio de Janeiro - RJ, 22250-020 · CNES 2269988
Serviço de Referência
Instituto Nacional de Saúde da Mulher, da Criança e do Adolescente Fernandes Figueira (IFF/Fiocruz)
Av. Rui Barbosa, 716 - Flamengo, Rio de Janeiro - RJ, 22250-020 · CNES 2269988
Serviço de Referência
Hospital São Lucas da PUCRS
Av. Ipiranga, 6690 - Jardim Botânico, Porto Alegre - RS, 90610-000 · CNES 2232928
Serviço de Referência
Hospital de Clínicas de Porto Alegre (HCPA)
Rua Ramiro Barcelos, 2350 Bloco A - Av. Protásio Alves, 211 - Bloco B e C - Santa Cecília, Porto Alegre - RS, 90035-903 · CNES 2237601
Serviço de Referência
Hospital de Clínicas de Porto Alegre (HCPA)
Rua Ramiro Barcelos, 2350 Bloco A - Av. Protásio Alves, 211 - Bloco B e C - Santa Cecília, Porto Alegre - RS, 90035-903 · CNES 2237601
Serviço de Referência
Hospital Universitário da UFSC (HU-UFSC)
R. Profa. Maria Flora Pausewang - Trindade, Florianópolis - SC, 88036-800 · CNES 2560356
Serviço de Referência
Hospital das Clínicas da FMUSP
R. Dr. Ovídio Pires de Campos, 225 - Cerqueira César, São Paulo - SP, 05403-010 · CNES 2077485
Serviço de Referência
Hospital das Clínicas da FMUSP
R. Dr. Ovídio Pires de Campos, 225 - Cerqueira César, São Paulo - SP, 05403-010 · CNES 2077485
Serviço de Referência
Hospital de Base de São José do Rio Preto
Av. Brg. Faria Lima, 5544 - Vila Sao Jose, São José do Rio Preto - SP, 15090-000 · CNES 2079798
Atenção Especializada
Hospital de Clínicas da UNICAMP
R. Vital Brasil, 251 - Cidade Universitária, Campinas - SP, 13083-888 · CNES 2748223
Serviço de Referência
Hospital de Clínicas da UNICAMP
R. Vital Brasil, 251 - Cidade Universitária, Campinas - SP, 13083-888 · CNES 2748223
Serviço de Referência
Hospital de Clínicas de Ribeirão Preto (HCRP-USP)
R. Ten. Catão Roxo, 3900 - Vila Monte Alegre, Ribeirão Preto - SP, 14015-010 · CNES 2082187
Serviço de Referência
Hospital de Clínicas de Ribeirão Preto (HCRP-USP)
R. Ten. Catão Roxo, 3900 - Vila Monte Alegre, Ribeirão Preto - SP, 14015-010 · CNES 2082187
Serviço de Referência
UNIFESP / Hospital São Paulo
R. Napoleão de Barros, 715 - Vila Clementino, São Paulo - SP, 04024-002 · CNES 2688689
Serviço de Referência
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
Application of the Gross Motor Function Measure in children with conditions other than cerebral palsy: A systematic review.
To investigate the application and evaluate the measurement properties of the Gross Motor Function Measure (GMFM) in children with conditions other than cerebral palsy (CP). A systematic review was conducted using five electronic databases to identify studies that used the GMFM in children with conditions other than CP. Methodological quality and measurement properties were evaluated using established standards for assessing outcome measures. We identified 210 studies across various paediatric conditions. Measurement property studies examined eight conditions: acquired brain injury, spinal muscular atrophy, Fukuyama congenital muscular dystrophy, Down syndrome, osteogenesis imperfecta, acute lymphoblastic leukaemia (ALL), leukodystrophy, and Pompe disease. Evidence quality was generally low to very low owing to small sample sizes and methodological limitations. Reliability showed sufficient ratings across most conditions. Content validity was examined only for ALL and demonstrated sufficient ratings. Responsiveness and construct validity showed variable results across conditions. Clinical application analysis revealed inadequate methodological reporting and widespread use without appropriate validation. GMFM validation for conditions other than CP remains insufficient despite widespread use. Content validity verification and enhanced methodological rigor are critically needed. Clinicians should interpret results cautiously until robust validation is established.
Humeroradial Synostosis: An Updated Classification and Differential Diagnosis Based on Genetic Aetiology.
Humeroradial synostosis (HRS) is a rare congenital limb malformation, characterised by fusion of the humeral and radial bones, leading to functional disability of the elbow joint. HRS may be reported in familial or sporadic cases and observed either isolated or as part of a syndromic condition. According to an extensive review of the literature, a dozen known conditions may comprise an HRS. The present review aims to propose an updated classification based on molecular pathways (chondrogenesis and osteogenesis; limb development and patterning; genome regulation), combined with a concise overview of the conditions associated with HRS. This knowledge could guide molecular analyses, patient management and genetic counselling. As some cases remain unexplained, further genetic and epidemiological studies are required to evaluate the contribution of genetic and environmental factors in HRS physiopathology.
Ensuring diverse representation and minimizing conflicts of interest in clinical practice guidelines.
Loss of KAT6B causes premature ossification and promotes osteoblast differentiation during development.
The MYST family histone acetyltransferase gene, KAT6B (MYST4, MORF, QKF) is mutated in two distinct human congenital disorders characterised by intellectual disability, facial dysmorphogenesis and skeletal abnormalities; the Say-Barber-Biesecker-Young-Simpson variant of Ohdo syndrome and Genitopatellar syndrome. Despite its requirement in normal skeletal development, the cellular and transcriptional effects of KAT6B in skeletogenesis have not been thoroughly studied. Here, we show that germline deletion of the Kat6b gene in mice causes premature ossification in vivo, resulting in shortened craniofacial elements and increased bone density, as well as shortened tibias with an expanded pre-hypertrophic layer, as compared to wild type controls. Mechanistically, we show that the loss of KAT6B in mesenchymal progenitor cells promotes transition towards an osteoblast-progenitor state with upregulation of gene targets of RUNX2, a master regulator of osteoblast development and concomitant downregulation of SOX9, a critical gene in chondrocyte development. Moreover, we find that compound heterozygosity at Kat6b and Runx2 loci partially rescues the reduction in ossification of Runx2 heterozygous, but not homozygous mice, suggesting that KAT6B may limit the action of RUNX2, possibly through a role in maintaining progenitors in an undifferentiated state. Moreover, our results show that KAT6B has essential roles in regulating the expression of a large number of genes involved in skeletogenesis and bone development.
The effect of LARP7 on gene expression during osteogenesis.
La-related protein 7 (LARP7) is a key regulator of RNA metabolism and is thought to play a role in various cellular processes. LARP7 gene autosomal recessive mutations are the cause of Alazami syndrome, which presents with skeletal abnormalities, intellectual disabilities, and facial dysmorphisms. This study aimed to determine the role of LARP7 in modulating gene expression dynamics during osteogenesis. First, the temporal expression profile of the LARP7 gene during various stages of osteogenesis was examined. Then, RNA interference-mediated knockdown of LARP7 was implemented and high-throughput RNA-seq analysis was performed in order to identify global gene expression changes associated with knockdown of LARP7. The findings show there were significant alterations in the overall gene expression profile. The observed down-regulation in extracellular matrix (ECM) component genes suggests that it might lead to impairments in the structure and function of the bone matrix. Additionally, modulation of alternative splicing events were observed, especially in the RUNX2 and SPP1, indicating the potential contribution of LARP7 to the phenotypic features observed in Alazami syndrome. Overall, the findings clarify the regulatory mechanisms of LARP7 in osteogenic differentiation and illuminate potential avenues for therapeutic interventions in patients with skeletal disorders.
Publicações recentes
A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome.
Phenome-based approach identifies RIC1-linked Mendelian syndrome through zebrafish models, biobank associations and clinical studies.
Comprehensive analysis of syndromic hearing loss patients in Japan.
The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype-phenotype correlations, and molecular basis.
Homozygous indel mutation in CDH11 as the probable cause of Elsahy-Waters syndrome.
📚 EuropePMCmostrando 43
Application of the Gross Motor Function Measure in children with conditions other than cerebral palsy: A systematic review.
Developmental medicine and child neurologyHumeroradial Synostosis: An Updated Classification and Differential Diagnosis Based on Genetic Aetiology.
Clinical geneticsEnsuring diverse representation and minimizing conflicts of interest in clinical practice guidelines.
Nature reviews. EndocrinologyLoss of KAT6B causes premature ossification and promotes osteoblast differentiation during development.
Developmental biologyThe effect of LARP7 on gene expression during osteogenesis.
Molecular biology reportsLongitudinal skeletal growth and growth plate morphological characteristics of chondro-tissue specific CUL7 knockout mice.
Annals of anatomy = Anatomischer Anzeiger : official organ of the Anatomische GesellschaftBRD4 binds to active cranial neural crest enhancers to regulate RUNX2 activity during osteoblast differentiation.
Development (Cambridge, England)A mouse model of Weaver syndrome displays overgrowth and excess osteogenesis reversible with KDM6A/6B inhibition.
JCI insightLRP5, Bone Mass Polymorphisms and Skeletal Disorders.
GenesDefects of the spliceosomal gene SNRPB affect osteo- and chondro-differentiation.
The FEBS journalNovel mouse model of Weaver syndrome displays overgrowth and excess osteogenesis reversible with KDM6A/6B inhibition.
bioRxiv : the preprint server for biology[Clinical and genetic characteristics of 9 rare cases with coexistence of dual genetic diagnoses].
Zhonghua er ke za zhi = Chinese journal of pediatricsClinical-functional features of individuals with Osteogenesis Imperfecta and Ehlers-Danlos syndromes: A scoping review of assessment tools and ICF model.
Musculoskeletal science & practiceAging and Bone Metabolism.
Comprehensive PhysiologySnyder-Robinson syndrome: differential diagnosis of osteogenesis imperfecta.
Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USALe fort II distraction osteogenesis with a hybrid system for an Apert syndrome patient: A case report.
JPRAS openSCUBE3 loss-of-function causes a recognizable recessive developmental disorder due to defective bone morphogenetic protein signaling.
American journal of human geneticsCaput membranaceum: A novel clinical presentation of ZIC1 related skull malformation and craniosynostosis.
American journal of medical genetics. Part AUpdate of the genotype and phenotype of KMT2D and KDM6A by genetic screening of 100 patients with clinically suspected Kabuki syndrome.
American journal of medical genetics. Part AGenome-first approach for the characterization of a complex phenotype with combined NBAS and CUL4B deficiency.
BoneDoes Whole-Body Vibration Treatment Make Children's Bones Stronger?
Current osteoporosis reportsA Signature of Circulating miRNAs Associated With Fibrous Dysplasia of Bone: the mirDys Study.
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral ResearchA second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome.
European journal of human genetics : EJHGDe novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation.
American journal of human geneticsPhenome-based approach identifies RIC1-linked Mendelian syndrome through zebrafish models, biobank associations and clinical studies.
Nature medicineModeling Snyder-Robinson Syndrome in multipotent stromal cells reveals impaired mitochondrial function as a potential cause for deficient osteogenesis.
Scientific reportsComprehensive analysis of syndromic hearing loss patients in Japan.
Scientific reportsThe CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype-phenotype correlations, and molecular basis.
Genetics in medicine : official journal of the American College of Medical GeneticsDchs1-Fat4 regulation of osteogenic differentiation in mouse.
Development (Cambridge, England)[Surgical "no-touch" distraction technique to correct pediatric scoliosis].
Operative Orthopadie und TraumatologieSignificance of the Tks4 scaffold protein in bone tissue homeostasis.
Scientific reports17q21.32-q22 Deletion in a girl with osteogenesis imperfecta, tricho-dento-osseous syndrome, and intellectual disability.
Congenital anomaliesFunctional analysis of the cfdp1 gene in zebrafish provides evidence for its crucial role in craniofacial development and osteogenesis.
Experimental cell researchHomozygous indel mutation in CDH11 as the probable cause of Elsahy-Waters syndrome.
American journal of medical genetics. Part AOutcome Predictors in Pediatric Head Trauma: A Study of Clinicoradiological Factors.
Journal of pediatric neurosciencesOrthodontic Treatment and Maxillary Anterior Segmental Distraction Osteogenesis of a Subject with Williams-Beuren Syndrome and Isolated Cleft Palate: A Long-Term Follow-Up from the Age of 5 to 24 Years.
Case reports in dentistryAn example of the utility of genomic analysis for fast and accurate clinical diagnosis of complex rare phenotypes.
Orphanet journal of rare diseasesThe scaffold protein Tks4 is required for the differentiation of mesenchymal stromal cells (MSCs) into adipogenic and osteogenic lineages.
Scientific reportsCrouzon syndrome: Virtual planning of surgical treatment by application of internal distractors.
Annals of maxillofacial surgeryLoss of Asxl1 Alters Self-Renewal and Cell Fate of Bone Marrow Stromal Cell, Leading to Bohring-Opitz-like Syndrome in Mice.
Stem cell reportsRare diseases: matching wheelchair users with rare metabolic, neuromuscular or neurological disorders to electric powered indoor/outdoor wheelchairs (EPIOCs).
Disability and rehabilitationOsteogenesis Imperfecta Type I Caused by COL1A1 Deletions.
Calcified tissue internationalExpansion and compression distraction osteogenesis based on volumetric and neurodevelopmental analysis in sagittal craniosynostosis.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryAssociações
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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.
- Application of the Gross Motor Function Measure in children with conditions other than cerebral palsy: A systematic review.
- Humeroradial Synostosis: An Updated Classification and Differential Diagnosis Based on Genetic Aetiology.
- Ensuring diverse representation and minimizing conflicts of interest in clinical practice guidelines.
- Loss of KAT6B causes premature ossification and promotes osteoblast differentiation during development.
- The effect of LARP7 on gene expression during osteogenesis.
- A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome.
- Phenome-based approach identifies RIC1-linked Mendelian syndrome through zebrafish models, biobank associations and clinical studies.
- Comprehensive analysis of syndromic hearing loss patients in Japan.
- The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype-phenotype correlations, and molecular basis.
- Homozygous indel mutation in CDH11 as the probable cause of Elsahy-Waters syndrome.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:2773(Orphanet)
- MONDO:0017196(MONDO)
- Osteogenese Imperfeita(PCDT · Ministério da Saúde)
- GARD:587(GARD (NIH))
- Busca completa no PubMed(PubMed)
- Q55345985(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
