A Acondroplasia é a forma mais comum de condrodisplasia, uma condição que afeta o crescimento da cartilagem. Ela se caracteriza por: braços e pernas mais curtos (principalmente na parte superior, perto do tronco), uma curvatura acentuada na parte inferior da coluna (lordose), dedos curtos nas mãos e nos pés, e uma cabeça grande, com a testa mais saliente e a parte central do rosto menos desenvolvida.
Introdução
O que você precisa saber de cara
A Acondroplasia é a forma mais comum de condrodisplasia, uma condição que afeta o crescimento da cartilagem. Ela se caracteriza por: braços e pernas mais curtos (principalmente na parte superior, perto do tronco), uma curvatura acentuada na parte inferior da coluna (lordose), dedos curtos nas mãos e nos pés, e uma cabeça grande, com a testa mais saliente e a parte central do rosto menos desenvolvida.
Tem tratamento?
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 31 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 74 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: Autosomal dominant.
Tyrosine-protein kinase that acts as a cell-surface receptor for fibroblast growth factors and plays an essential role in the regulation of cell proliferation, differentiation and apoptosis. Plays an essential role in the regulation of chondrocyte differentiation, proliferation and apoptosis, and is required for normal skeleton development. Regulates both osteogenesis and postnatal bone mineralization by osteoblasts. Promotes apoptosis in chondrocytes, but can also promote cancer cell proliferat
Cell membraneCytoplasmic vesicleEndoplasmic reticulumSecreted
Achondroplasia
A frequent form of short-limb dwarfism. It is characterized by a long, narrow trunk, short extremities, particularly in the proximal (rhizomelic) segments, a large head with frontal bossing, hypoplasia of the midface and a trident configuration of the hands. ACH is an autosomal dominant disease.
Medicamentos e terapias
Mecanismo: Atrial natriuretic peptide receptor B binding agent
Mecanismo: Fibroblast growth factor receptor inhibitor
Variantes genéticas (ClinVar)
416 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 62 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
16 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 — Acondroplasia
Centros de Referência SUS
24 centros habilitados pelo SUS para Acondroplasia
Centros para Acondroplasia
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 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 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 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 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
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 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
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 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 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 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
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47 ensaios clínicos encontrados, 19 ativos.
Publicações mais relevantes
Mostrando amostra de 200 publicações de um total de 915
Maternal decision-making through temporal uncertainties: The anticipatory biopolitics of Vosoritide in dwarfism communities.
Vosoritide, a biotechnological therapy designed to increase growth in children with achondroplasia, has introduced new pressures and bodily possibilities for families navigating this rare genetic condition. While debates around its use often centre on its efficacy as a non-surgical growth treatment for the most common form of non-lethal human dwarfism, far less attention has been paid to how the medication (re)shapes the temporal landscape of maternal decision-making, children's bodily autonomy, and community dynamics. Drawing on qualitative interviews with mothers from UK dwarfism communities, comprising both average-statured and dwarf mothers, this research locates maternal decision-making within broader regimes of health governance, biosocial communities, and concepts of 'good' mothering. Conceptually, the article foregrounds how Vosoritide functions as a future-oriented health technology and a site of anticipatory biopolitics; governing decision-making through overlapping and complex regimes of temporality, maternal responsibilisation, and biosociality. Vosoritide emerges not only as a site of biomedical possibility, but also as a biopolitical discourse, shaping how mothers of children with dwarfism (re)imagine and manage their child's body, future, and identity. In doing so, this research advances sociological scholarship by exposing the temporal and anticipatory 'logics' through which biopower operates in the governance of dwarfism.
METTL16 Modulates GPX4 Expression to Regulate Chondrocyte Ferroptosis.
Achondroplasia (ACH), the predominant inherited form of disproportionate short stature, results from specific genetic alterations in fibroblast growth factor receptor 3 (FGFR3). N6-methyladenosine (m6A) modification is reported to modulate mRNA stability and translation. The present investigation systematically explored the epigenetic regulatory function of METTL16, an m6A RNA methyltransferase, within the pathophysiological framework of ACH. We generated an ACH mouse model via Fgfr3380R (Fgfr3ach) gene mutation. Primary chondrocytes were isolated from newborn mice and stimulated with IL-1β to induce cell death. Proximal tibia tissues were collected and analyzed with HE staining, toluidine blue staining, safranin O staining, and immunohistochemical (IHC) analysis. Bone structure was analyzed by measuring bone mineral density (BMD), ratio of bone volume to total tissue volume (BV/TV), trabecular number (TbN), and trabecular thickness (TbTh). Cell viability and proliferation were assessed using the Cell Counting Kit-8 (CCK-8) and colony formation assays. The levels of iron (Fe2+), malondialdehyde (MDA), and glutathione (GSH) were measured to assess ferroptosis. Protein and RNA levels were measured by western blotting and quantitative real-time PCR (qPCR) assay, respectively, while the m6A modification level was assessed by m6A mRNA immunoprecipitation (IP). METTL16 improved bone chondrogenesis in the ACH mouse model, with METTL16 overexpression promoting the proliferation of primary chondrocytes. METTL16 decreased ferroptosis both in vitro and in vivo and increased glutathione peroxidase 4 (GPX4) expression. METTL16 enhanced m6A modification of GPX4 mRNA and suppressed its degradation. Depletion of GPX4 abolished the effects of METTL16 on ACH mice and chondrocytes. Overexpression of METTL16 improved bone growth and alleviated ferroptosis of chondrocytes by increasing m6A modification of GPX4 mRNA and thus GPX4 expression in chondrocytes. The METTL16/GPX4 axis may be a promising therapeutic approach for ACH treatment.
Excess FGFR3 signaling in achondroplasia disrupts turnover of resting zone chondrocytes via CREB signaling.
Achondroplasia, associated with gain-of-function mutations in FGFR3, causes growth plate cartilage dysfunction, resulting in short-limb dwarfism. However, its precise molecular and cellular mechanisms remain unclear. To address this, we aimed to generate knock-in mice (Fgfr3Ach) harboring the achondroplasia mutation (p.Gly380Arg). In addition to previously reported abnormalities, we observe an expansion of the resting zone. EdU labeling and lineage tracing analyses indicate that disruption of turnover and impairment of stem cell-like behavior of resting zone chondrocytes results in accumulation of cells in the resting zone. Single-cell RNA-seq and immunohistochemical analysis identify a cell cluster that corresponds to the expanded resting zone. Pathway analysis and functional experiments reveal that CREB disrupts stem cell-like properties in resting zone chondrocytes and contributes to dwarfism. Administration of CREB inhibitor 666-15 restores growth plate pathology and bone length. These findings demonstrate that excess FGFR3 signaling disrupts resting zone chondrocyte properties and suggest potential therapeutic targets for achondroplasia.
Foramen magnum stenosis, cervicomedullary decompression, and growth in children with achondroplasia: a retrospective cohort study.
Foramen magnum stenosis (FMS) is a serious complication in children with achondroplasia that may necessitate cervicomedullary decompression (CMD). It is unclear how FMS and CMD influence growth in these children. This study aimed to assess the effects of FMS and CMD on the growth of children with achondroplasia. Eighty-seven children (45 males, 42 females) with achondroplasia, aged 4 to 6 years, were evaluated. Height, weight, head circumference, and body mass index were expressed as standard deviation scores (SDS) according to Merker et al., while sitting height SDS was derived using Tanner’s methods. FMS was graded on magnetic resonance imaging using Fornarino’s score. Fifty-two patients (26 males, 26 females) underwent CMD at a median age of 0.95 years (IQR 0.52;1.50). Of these, 28 (53.8%) were under one year old at the time of CMD, with a median age of 0.6 years (0.4;0.7). The remaining 24 children had CMD after their first year of life, with a median age of 1.6 years (1.3;2.8). The median age at anthropometric assessment was 5.16 years (4.74;5.50). Children who underwent CMD showed significantly lower median height SDS, particularly among males compared to females (p=0.026). Impaired growth in children with foramen magnum stenosis requiring cervicomedullary decompression may primarily reflect greater disease severity, while the potential contribution of surgery remains uncertain.
Spatiotemporal Regulation and Lineage Specification in Embryonic Endochondral Ossification.
Long bone formation in vertebrates proceeds via endochondral ossification, a sequential process that begins with mesenchymal condensation, advances through cartilage anlage formation, and culminates in its replacement by mineralized bone. Recent advances in inducible lineage tracing and single-cell genomics have revealed that, rather than being a uniform event, mesenchymal condensation rapidly segregates into progenitor pools with distinct fates. Centrally located Sox9+/Fgfr3+ chondroprogenitors expand into the growth plate and metaphyseal stroma, peripheral Hes1+ boundary cells refine condensation via asymmetric division, and outer-layer Dlx5+ perichondrial cells generate the bone collar and cortical bone. Concurrently, dorsoventral polarity established by Wnt7a-Lmx1b and En1 ensures that dorsal progenitors retain positional identity throughout development. These lineage divergences integrate with signaling networks, including the Ihh-PTHrP, FGF, BMPs, and WNT/β-catenin networks, which impose temporal control over chondrocyte proliferation, hypertrophy, and vascular invasion. Perturbations in these programs, exemplified by mutations in Fgfr3, Sox9, and Dlx5, underlie region-specific skeletal dysplasias, such as achondroplasia, campomelic dysplasia, and split-hand/foot malformation, demonstrating the lasting impacts of embryonic patterning errors. Based on these insights, regenerative strategies are increasingly drawing upon developmental principles, with organoid cultures recapitulating ossification centers, biomimetic hydrogels engineered for spatiotemporal morphogen delivery, and stem cell- or exosome-based therapies harnessing developmental microRNA networks. By bridging developmental biology with biomaterials science, these approaches provide both a roadmap to unravel skeletal disorders and a blueprint for next-generation therapies to reconstruct functional bones with the precision of the embryonic blueprint.
Publicações recentes
A Phase II Basket Trial of Vosoritide in Children with RASopathies, ACAN and NPR2 Deficiency.
Development of a Step-By-Step Clinical Decision Tool for Difficult Spinal Anesthetics: A Case Report of a Pregnant Patient With Achondroplasia, Previous Lumbar Fusion, and Class III Obesity.
Dkk1 inhibition restores mandibular growth in an achondroplasia mouse model.
🥉 Relato de casoOrthodontic and Maxillofacial Surgery Treatment in Achondroplasia for Orofacial Alterations: A Systematic Review and Preliminary Age-Stratified Guidelines.
📚 EuropePMC1.467 artigos no totalmostrando 198
The Clinical Utility of Whole-Exome Sequencing in the Prenatal Diagnosis of Fetal Skeletal Dysplasia.
International journal of women's healthEfficacy and safety of limb lengthening in achondroplasia: A systematic review and meta-analysis.
International orthopaedicsAnalysis of fetal MRI data reveals no effect on liver maturation following prenatal alcohol exposure.
European radiologyFactors Associated with Inconveniences in Daily At-home Living among Adults with Achondroplasia.
Progress in rehabilitation medicineEarly Neonatal Administration of Vosoritide in Achondroplasia: A Report of Two Cases.
American journal of medical genetics. Part AGenotype-phenotype correlations in PSACH/EDM1 patients with COMP gene variants: a comprehensive review of 830 cases.
Frontiers in endocrinologyEffect of vosoritide on spine morphology in children with achondroplasia: 1-year results from a randomized phase 2 study.
Journal of the Endocrine SocietyEconomic Burden and Health-Related Quality of Life Among Children With Achondroplasia in China: A Cross-Sectional Study.
Value in health regional issuesEffect of vosoritide on genu varum in children with achondroplasia after 1 year in randomized placebo-controlled trials.
Journal of the Endocrine SocietyDevelopment of Muscle Function in Children with Achondroplasia Under Vosoritide Treatment: A Retrospective Single-Centre Observational Study.
Journal of musculoskeletal & neuronal interactionsMaternal decision-making through temporal uncertainties: The anticipatory biopolitics of Vosoritide in dwarfism communities.
Social science & medicine (1982)Pathways to Facilitate Early Recognition and Diagnosis of Hypochondroplasia.
Advances in therapyMETTL16 Modulates GPX4 Expression to Regulate Chondrocyte Ferroptosis.
Frontiers in bioscience (Landmark edition)Excess FGFR3 signaling in achondroplasia disrupts turnover of resting zone chondrocytes via CREB signaling.
Nature communicationsCorrigendum to "Bipedal static postural stability in children with achondroplasia compared to typically developed children in the age range of 9-12 years - A pilot study" [Gait Posture 117 (2025) 337-341].
Gait & postureT1-T12 and T1-S1 Lengths at Maturity in Patients With Skeletal Dysplasia.
Journal of pediatric orthopedicsForamen Magnum Stenosis in Achondroplasia: Imaging-Based Surgical Indications, Synchondrosis Fusion, and the Role of Ventriculomegaly.
Pediatric neurosurgeryClarification regarding surgical comparisons in achondroplasia and OSA.
Journal of clinical sleep medicine : JCSM : official publication of the American Academy of Sleep MedicinePractical guidance for clinicians to optimise orthopaedic outcomes in achondroplasia: International Achondroplasia Forum guiding principles.
BoneThe Metacarpophalangeal Pattern Profile: An Old Method With New Insights Into the Evaluation of Short Stature.
American journal of human biology : the official journal of the Human Biology Council[Key points of the International consensus guidelines on the implementation and monitoring of vosoritide therapy in individuals with Achondroplasia].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical geneticsThe CrescNet Registry Achondroplasia Module: Real-World Demographic Data and Clinical Outcomes in Untreated and Vosoritide-Treated Individuals.
Hormone research in paediatricsForamen magnum stenosis, cervicomedullary decompression, and growth in children with achondroplasia: a retrospective cohort study.
Orphanet journal of rare diseasesMultilevel Laminectomy for Lumbar Spinal Stenosis With Low Back Pain in Achondroplasia: A Case Report.
The American journal of case reportsSpatiotemporal Regulation and Lineage Specification in Embryonic Endochondral Ossification.
International journal of molecular sciencesInfigratinib is a weak inhibitor of the FGFR3-N540K mutant associated with hypochondroplasia.
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral ResearchThe anterior cervical approach in pediatric patients: indications and outcomes.
Journal of neurosurgery. PediatricsUK consensus guidelines for multidisciplinary care of children and young people with achondroplasia: a modified Delphi process.
Archives of disease in childhoodAn overview of the International Consensus Statement on achondroplasia.
Orphanet journal of rare diseasesHomozygous Achondroplasia With Long-Term Survival: Growth Patterns, Medical Interventions, and Practice Implications.
American journal of medical genetics. Part AOtologic Axis and Sleep-Disordered Breathing in Achondroplasia: Age-Structured Cohort Findings.
Healthcare (Basel, Switzerland)Functional analysis of NPR2 variants supports the therapeutic rationale for CNP in short stature.
American journal of human geneticsPregnancy and Delivery in a Woman With Achondroplasia: A Multidisciplinary Management Approach.
CureusLongitudinal Observation of Children with Achondroplasia: Findings from a Global Natural History Study (ACHieve).
Hormone research in paediatricsElevated MMP9 Expression-A Potential In Vitro Biomarker for COMPopathies.
International journal of molecular sciencesReal-world outcomes of vosoritide in achondroplasia: A systematic review and meta-analysis of multinational clinical evidence.
Genetics in medicine : official journal of the American College of Medical GeneticsC-type natriuretic peptide as mediator of growth in the absence of growth hormone: Unraveling the mystery of the growth without GH syndrome.
Hormones (Athens, Greece)Detection of fetal structural abnormalities at 20 and 30 weeks: a retrospective study of prenatal ultrasound screening.
Journal of medical ultrasonics (2001)Posterior decompression and spinous process reconstruction for lumbar spinal stenosis in a pediatric patient with achondroplasia: a case report.
Journal of medical case reportsThree-dimensional craniofacial imaging in children with achondroplasia treated with vosoritide.
Genetics in medicine openGeneralized Epidermal Nevus and Acanthosis Nigricans Due to a Postzygotic FGFR3 Variant.
JAMA dermatologyEfficacy and Safety of Oral Meclizine for Growth Promotion in Children with Achondroplasia: A Phase 2 Clinical Trial.
Calcified tissue internationalQualitative Research in Children and Parents of Children with Achondroplasia to Evaluate the Content Validity of Multiple Clinical Outcome Assessments.
Advances in therapySpinal Stenosis in Achondroplasia - A Case Report and Review of the Literature.
Journal of orthopaedic case reportsFrame matters: Rethinking prone positioning for spinal surgery in achondroplasia.
Journal of perioperative practiceOnce-Weekly Navepegritide in Children With Achondroplasia: The APPROACH Randomized Clinical Trial.
JAMA pediatricsThe gut microbiota-derived metabolites regulate bone extracellular matrix homeostasis: Mechanisms and therapeutic implications.
Cellular signallingFunctional Change in Three Adolescents With Achondroplasia Following 12 Months Treatment With Vosoritide-A Case Series.
Journal of paediatrics and child healthReal-world safety and age-dependent effectiveness of vosoritide in achondroplasia: A single-center retrospective analysis of transition from growth hormone to vosoritide.
BoneCrouzonodermoskeletal syndrome requires individualized surgical management: Scoping review of a rare complex craniofacial syndrome.
JPRAS openYoung Adults With Achondroplasia, Self-Esteem, and Wellbeing: Examining the Impact of Dance Sessions and Augmented Dance Sessions.
Creative nursingFeeding, Nutrition, and Physical Activity From the Perspectives of People With Skeletal Dysplasia in Australia and Norway: A Mixed Qualitative Methods Study.
American journal of medical genetics. Part AClinical burden and healthcare resource utilization associated with achondroplasia: a real-world observational, retrospective cohort study.
Orphanet journal of rare diseasesCORR Insights®: Are the Clinical Outcomes of Lumbar Stenosis in Achondroplasia Associated With the Severity of Stenosis and Sagittal Balance?
Clinical orthopaedics and related researchAchondroplasia and hypochondroplasia in France: a nationwide epidemiological analysis.
Orphanet journal of rare diseasesA Natural Part of Human Diversity.
Creative nursingAnesthetic management of children undergoing specialized orthopedic surgeries.
Journal of clinical orthopaedics and traumaCardiovascular risk in achondroplasia: a systematic review.
Journal of medical geneticsFrom Protein Misfolding to Extracellular Matrix Disorganisation: Understanding Disease Pathology in Rare Skeletal Dysplasias.
International journal of molecular sciencesAchondroplasia treatments in children aged 5 and older.
Molecular and cellular pediatricsSimultaneous bilateral total knee replacement in a patient with achondroplasia and severe varus deformity: a case report.
Journal of surgical case reportsSurgical and anaesthesia decision making algorithms in patients with congenital spinal stenosis: a case report of awake endoscopic decompression in a patient with achondroplasia and literature review.
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[Clinical features and variant spectrum of FGFR3-related disorders].
Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatricsBody composition, anthropometry, and resting energy expenditure in adults with achondroplasia: a pilot study to determine best practices.
Orphanet journal of rare diseasesFGFR3 gain-of-function delays intramembranous bone healing in a mouse calvarial fracture model.
Biochemical and biophysical research communicationsQuantitative Gait Assessment before and after Limb Lengthening in a Patient with Achondroplasia: A Case Report.
Progress in rehabilitation medicineFunctional Independence Assessment in Children and Adolescents with Achondroplasia: A Multicenter Cross-Sectional Study Using the WeeFIM Scale.
Diagnostics (Basel, Switzerland)Constitutive activation of activin receptor-like kinase 3 in chondrocytes exacerbates skeletal dysplasia in mice with achondroplasia.
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral ResearchThanatophoric Dysplasia Type 1 Treated with Vosoritide: A Case Report.
Hormone research in paediatricsExternal hinge fixation system for leg lengthening and correction of axial deviations, / Salamehfix 1/. configuration and clinical advantages.
International orthopaedicsExome Sequencing Reveals Novel Variants in Genetic Skeletal Disorders: Insights From a Cohort in Southwest Iran.
Clinical geneticsBasal Metabolic Requirements, Biomarkers of Cardiometabolic Health, and Anthropometric Measures of Obesity in Women and Men With Restricted Growth Conditions.
American journal of medical genetics. Part AAre the Clinical Outcomes of Lumbar Stenosis in Achondroplasia Associated With the Severity of Stenosis and Sagittal Balance?
Clinical orthopaedics and related researchChallenges and solutions in the treatment of spinal disorders in patients with skeletal dysplasia: A comprehensive review.
World journal of methodologyComparative Outcomes of 8.5 mm Intramedullary Nails Versus Extramedullary Constructs for Femoral Lengthening in Pediatric Patients.
Journal of pediatric orthopedicsPostoperative Rehabilitation Following Total Hip Arthroplasty in Achondroplasia: A Case Report Focused on Dislocation Prevention and Environmental Simulation.
CureusAssessing the clinical relevance of MRI findings in adult achondroplasia patients with lumbar spinal stenosis.
Brain & spineVosoritide (Voxzogo) for Achondroplasia: A Review of Clinical and Real-World Evidence.
CureusThe Value of Enhancing Sonographic Phenotyping to Improve the Diagnostic Yield of Noninvasive Prenatal Diagnosis (NIPD) for Achondroplasia.
Prenatal diagnosisMitral Valve Repair in a Patient With Achondroplasia.
JACC. Case reportsDevelopment of the QoLISSY 0-4 questionnaire: a health-related quality of life tool for young children with short stature.
Journal of patient-reported outcomesProne positioning for spinal surgery in achondroplasia: A case study report.
Journal of perioperative practiceAnaesthesia for infants and young children with achondroplasia.
BJA educationDuplicated superior vena cava in a patient with tetralogy of Fallot: A rare vascular anomaly.
Radiology case reportsAn AI-assisted tool for automated growth monitoring in pediatric achondroplasia.
European journal of pediatricsIntegrating vosoritide therapy with limb surgery in paediatric patients with achondroplasia: real-life experiences.
Orphanet journal of rare diseasesSleep-disordered breathing in children with achondroplasia assessed by polysomnography: a retrospective chart review.
Archives of disease in childhoodDiscovery of Potent FGFR2/3 Inhibitors to Overcome Mutation Resistance and Treat Achondroplasia.
ACS medicinal chemistry lettersPrevalence of low birth weight, short length, and body disproportion at birth in patients with skeletal dysplasias: A retrospective study.
Archivos argentinos de pediatriaGenetics of short stature.
Current opinion in pediatrics[Skeletal dysplasias-Multidisciplinary orthopedics].
Orthopadie (Heidelberg, Germany)Neurologic outcomes in patients with skeletal dysplasias undergoing cervical fusion and occipitocervical fusion.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryResolving the design principles that control post-natal vascular growth and scaling.
Cell systemsEnhancing care coordination for neurofibromatosis type 1 in primary care: insights and applications for rare diseases.
Journal of community geneticsSignatures of selection detected from whole-genome sequencing indicate that the small body size in dwarf rabbit breeds is caused by polygenic effects with a few major loci.
Animal geneticsInfigratinib low dose therapy is an effective strategy to treat hypochondroplasia.
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral ResearchC-type natriuretic peptide and collagen X marker are aberrant in skeletal dysplasias.
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral ResearchA Single-Center Retrospective Analysis of a Standardized Sedation Protocol for MRI in Children with Achondroplasia: Minimal Complications and Excellent Imaging Quality.
Children (Basel, Switzerland)Sleep apnea in patients with achondroplasia associated with foramen magnum stenosis.
Journal of neurosurgery. PediatricsOral Infigratinib Therapy in Children with Achondroplasia. Reply.
The New England journal of medicineOral Infigratinib Therapy in Children with Achondroplasia.
The New England journal of medicineDifferences in gait parameters between children with achondroplasia and an age-matched control group of typically developed children in the age range of 6 to 12 years.
PloS oneRehabilitation in a child with Chiari II malformation, lumbosacral meningomyelocele, achondroplasia and impaired respiratory regulation - a case report and literature review.
Journal of pediatric rehabilitation medicineCoping and quality of life of parents of children with achondroplasia-a narrative review.
Frontiers in medicine[An update review of advances in the treatment of achondroplasia].
Zhonghua er ke za zhi = Chinese journal of pediatricsHealth State Utilities for Achondroplasia: A Time Trade-Off Study.
Value in health : the journal of the International Society for Pharmacoeconomics and Outcomes ResearchReal-World Safety and Effectiveness of Vosoritide in Achondroplasia: Results from a Single Center in Portugal.
Advances in therapyDevelopment of an individualized and functional CPAP ventilation mask using a fully digital workflow by facial scanning and additive manufacturing for a child with craniofacial anomalies.
Sleep medicineDynamic MRI in the Evaluation of the Cervical Spine in Pediatric Patients With Achondroplasia.
American journal of medical genetics. Part APotential efficacy of vosoritide for foramen magnum stenosis in a patient with achondroplasia.
Pediatrics international : official journal of the Japan Pediatric SocietyPhosphodiesterase 3 inhibitors boost bone outgrowth.
British journal of pharmacologySurvivorship of Individuals With Double Heterozygosity for Achondroplasia and Type 2 Collagenopathy.
American journal of medical genetics. Part AAn infant with achondroplasia worsening of the foramen magnum stenosis during early vosoritide treatment.
Pediatrics international : official journal of the Japan Pediatric SocietyTechnical performance analyses in elite Paralympic swimming using wearable technology: two case studies.
Sports biomechanicsMechanisms associated with obstructive sleep apnea in achondroplasia.
Journal of clinical sleep medicine : JCSM : official publication of the American Academy of Sleep Medicine[Clinical analysis in 15 pediatric patients with osteochondrodysplasias related to COMP gene variants].
Zhonghua er ke za zhi = Chinese journal of pediatricsManagement of sleep-disordered breathing in achondroplasia: guiding principles of the European Achondroplasia Forum.
Orphanet journal of rare diseasesTACC3 facilitates chondrocyte differentiation by attenuating abnormally activated FGFR3 signaling in achondroplasia - An in vitro study.
Tissue & cellGait Improvement After Distal Femoral Osteotomy for Permanent Patellar Dislocation Following Femoral Lengthening in an Adolescent With Achondroplasia: A Case Report.
CureusTransition Care for Young Persons with Rare Bone Mineral Conditions: A Consensus Recommendation from the ECTS Rare Bone Disease Action Group.
Calcified tissue internationalEnsuring diverse representation and minimizing conflicts of interest in clinical practice guidelines.
Nature reviews. EndocrinologyComparison of bilateral tibial lengthening with circular external fixator and simultaneous deformity correction with hexapod external fixator in Achondroplasia.
European journal of medical geneticsBalancing independence: Priorities, tensions, obstacles, and facilitators for independence among young adults with skeletal dysplasia and short stature.
Journal of genetic counselingHypertrichosis associated with the use of C-type natriuretic peptide analogue: a case report.
Journal of medical case reportsRadiofrequency Probe Guidance in Peripheral Nerve Stimulator Placement for Complex Anatomy: A Case Report.
Pain medicine case reportsAdvances in the mechanism and therapies of achondroplasia.
Genes & diseasesGenetic variations in pseudoachondroplasia: a review of case reports.
Laboratory medicineChanges in the Alignment of the Spine and Lower Limb in Children With Achondroplasia Treated With Vosoritide: A Single-center, 1-year Follow-up Prospective Study.
Journal of pediatric orthopedicsNew Argentine head circumference references for people with achondroplasia from 0 to 21 years of age.
Archivos argentinos de pediatriaTYRA-300, an FGFR3-selective inhibitor, promotes bone growth in two FGFR3-driven models of chondrodysplasia.
JCI insightUnilateral biportal endoscopic decompression for lumbar spinal stenosis in achondroplasia: a 30-month follow up case report.
European spine journal : official publication of the European Spine Society, the European Spinal Deformity Society, and the European Section of the Cervical Spine Research SocietyThe Awake Resting Breathing and Thoraco-Abdominal Pattern In Children With Achondroplasia: A Pilot Cross-Sectional Study.
Health science reportsBiomechanical Evaluation and Analysis of a Reused Telescopic Intramedullary Femoral Nail in a Child with Achondroplasia.
Revista espanola de cirugia ortopedica y traumatologiaHealth-Related Quality of Life of Individuals with Physical Disabilities in Childhood.
Children (Basel, Switzerland)Real-world Outcome of Vosoritide Treatment in Children With Achondroplasia: A 12-month Retrospective Observational Study.
Journal of the Endocrine SocietyRoutine 36-week scan: diagnosis of fetal abnormalities.
Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and GynecologyBilateral Total Hip Arthroplasty in a Patient With Achondroplasia: Challenges and Surgical Strategies.
Arthroplasty today[Significance and considerations of early diagnosis and treatment for improving height outcomes in children with achondroplasia].
Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatricsLimb lengthening in individuals with achondroplasia: Analysis of an international survey.
BoneFunctional Change in a Child With Achondroplasia Following 12 Months Treatment With Vosoritide-A Case Report.
American journal of medical genetics. Part AImmediate Autologous Breast Reconstruction in a Patient With Achondroplasia.
Annals of plastic surgeryMental health conditions, physical functioning, and health-related quality of life in adults with a skeletal dysplasia: a cross-sectional multinational study.
Orphanet journal of rare diseasesRecommendations for management of infants and young children with achondroplasia: Does clinical practice align?
Orphanet journal of rare diseasesClinical and economic burden of achondroplasia in the United States: results from a retrospective, observational study.
Orphanet journal of rare diseasesOral Infigratinib in Children with Achondroplasia - Targeted Treatment.
The New England journal of medicineMultidisciplinary Management of Acute Tetraparesis in an Infant with Achondroplasia, with a Focus on Anesthetic Strategies: A Case Report.
Children (Basel, Switzerland)Flexion-extension cervical MRI imaging in pediatric patients with achondroplasia unsupervised by neurosurgery or radiology, is it safe?
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryFunctional performance and symptomatology of adults with skeletal dysplasia across self-care, mobility, and cognition-a cross-sectional study.
JBMR plusCharacteristics of sleep disordered breathing in children with achondroplasia.
Sleep & breathing = Schlaf & AtmungManagement of Maternal Genetic Conditions in Pregnancy, Part 1: Disorders of the Connective Tissue, Muscle, Vascular, and Skeletal Systems.
Obstetrical & gynecological surveyAchondroplasia and obstructive sleep apnea: surgical outcomes and comparison to general population.
Journal of clinical sleep medicine : JCSM : official publication of the American Academy of Sleep MedicineConsiderations for Anthropometry Specific to People with Disproportionate Short Stature.
Advances in therapyAnesthetic Management of Parturients With Achondroplasia During Labor and Delivery: A Narrative Review.
Anesthesia and analgesiaEarly evaluation and treatment of thoracolumbar kyphosis in children with achondroplasia.
European spine journal : official publication of the European Spine Society, the European Spinal Deformity Society, and the European Section of the Cervical Spine Research SocietyAchondroplasia Status and Adverse Short-Term Postoperative Outcomes in Elective Spinal Decompression Surgery: A Propensity Score-Matched Case-Control Study.
Journal of clinical neuroscience : official journal of the Neurosurgical Society of AustralasiaRMRP variants inhibit the cell cycle checkpoints pathway in cartilage‑hair hypoplasia.
Molecular medicine reportsPrevalence and natural development of thoracolumbar kyphosis in achondroplasia: A systematic review and meta-analysis.
Brain & spineReal-World Safety and Effectiveness of Vosoritide in Children with Achondroplasia: French Early Access Program.
Hormone research in paediatricsFrontal Plane Knee Kinematics and Kinetics During Gait in Children and Youth with Achondroplasia-Correspondence with Static X-Ray Images and Relevance to Symptoms.
Children (Basel, Switzerland)[Lenthening and reconstruction progress of achondroplastic short arm deformity].
Zhongguo xiu fu chong jian wai ke za zhi = Zhongguo xiufu chongjian waike zazhi = Chinese journal of reparative and reconstructive surgeryEvolution of sleep disordered breathing in infants with achondroplasia.
Sleep & breathing = Schlaf & AtmungBipedal static postural stability in children with achondroplasia compared to typically developed children in the age range of 9-12 years - A pilot study.
Gait & postureImpact of lower limb lengthening with telescopic nails on functionality and quality of life in patients with achondroplasia.
Revista espanola de cirugia ortopedica y traumatologiaFgfr3 enhancer deletion markedly improves all skeletal features in a mouse model of achondroplasia.
The Journal of clinical investigationApproach to the Patient with Achondroplasia-New Considerations for Diagnosis, Management, and Treatment.
The Journal of clinical endocrinology and metabolismLoss of CHOP Prevents Joint Degeneration and Pain in a Mouse Model of Pseudoachondroplasia.
International journal of molecular sciencesInternational consensus guidelines on the implementation and monitoring of vosoritide therapy in individuals with achondroplasia.
Nature reviews. EndocrinologyA homozygous variant in FGFR3 causing lethal skeletal dysplasia.
Sudanese journal of paediatricsNew directions in growth hormone treatment in children.
Pediatric endocrinology, diabetes, and metabolismSustained growth-promoting effects of vosoritide in children with achondroplasia from an ongoing phase 3 extension study.
Med (New York, N.Y.)Management of Methicillin-Resistant Staphylococcus aureus-infected femoral nonunion during lengthening in achondroplasia using circular external fixator: a case report.
BMC musculoskeletal disordersResolving the design principles that control postnatal vascular growth and scaling.
bioRxiv : the preprint server for biologyPrevalence and Associated Factors of Ankle Osteoarthritis in Achondroplasia: A Retrospective Radiographic Assessment of 134 Patients.
CartilagePrenatal diagnosis of achondroplasia and hypochondroplasia using three-dimensional computed tomography: a case series at a single institution.
Quantitative imaging in medicine and surgeryAnesthetic management of pregnant women with skeletal dysplasia and short stature: a case report.
Revista espanola de anestesiologia y reanimacionCDK8 inhibitor KY-065 rescues skeletal abnormalities in achondroplasia model mice.
Biochimica et biophysica acta. Molecular basis of diseaseLifetime Impact Study for Achondroplasia (LISA): Findings from an observational and multinational study focused on health-related quality of life in individuals with achondroplasia in Latin America.
Genetics in medicine openIntrauterine blood transfusion causes dose- and time-dependent signal alterations in the liver and the spleen on fetal magnetic resonance imaging.
European radiologyOtologic Manifestations in Patients with Achondroplasia: A Multicenter Study.
The journal of international advanced otologyPrenatal diagnosis of achondroplasia in primary care settings - Recognising the soft markers: A case report.
Malaysian family physician : the official journal of the Academy of Family Physicians of MalaysiaExpert consensus for the management of patients with achondroplasia in treatment with vosoritide.
Anales de pediatriaFoetal achondroplasia: Prenatal diagnosis, outcome and perspectives.
Journal of gynecology obstetrics and human reproductionSyndrome-informed phenotyping identifies a polygenic background for achondroplasia-like facial variation in the general population.
Nature communicationsPseudoachondroplasia associated with os odontoideum and retro-odontoid mass: case-based update.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryFeasibility study of the psychosocial effects of an online mindfulness intervention in children and adolescents with achondroplasia and their parents.
European journal of medical geneticsAnatomical Characteristics of Cervicomedullary Compression on MRI Scans in Children with Achondroplasia.
Journal of imagingMyriad of congenital excavated optic disc anomalies in achondroplasia.
BMJ case reportsQuality of Life in Short Stature Children With Skeletal Dysplasia: A Cross Sectional Study Using the Quality of Life in Short Stature Youth Questionnaire.
American journal of medical genetics. Part A[Achondroplasia : New era of orthopedic treatment?].
Orthopadie (Heidelberg, Germany)Intradural T12-L1 disc herniation in a patient with achondroplasia: A case report.
Surgical neurology internationalMeclozine and growth hormone ameliorate bone length and quality in experimental models of achondroplasia.
Journal of bone and mineral metabolismChallenges to self-care and domestic life for adults with disproportionate short statured skeletal dysplasia: a mixed method systematic review.
Disability and rehabilitationRetrospective evaluation of obstetric processes in patients with Familial Mediterranean Fever's disease: The three years experience of a tertiary rheumatology clinic.
Taiwanese journal of obstetrics & gynecologyPhase 2 Trial of Vosoritide Use in Patients with Hypochondroplasia: A Pharmacokinetic/Pharmacodynamic Analysis.
Hormone research in paediatricsAchondroplasia: aligning mouse model with human clinical studies shows crucial importance of immediate postnatal start of the therapy.
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral ResearchAssessment of the efficacy of vosoritide therapy in children with achondroplasia in clinical trials.
Translational pediatricsVosoritide therapy in children with achondroplasia under 5 years of age.
Translational pediatricsAchondroplasia current concept of orthopaedic management.
Journal of children's orthopaedicsAssociações
Organizações que acompanham esta doença — pra ter apoio e orientação
Associação brasileira dedicada a Acondroplasia.
Associação brasileira dedicada a Nanismo.
Associação brasileira dedicada a Acondroplasia.
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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.
- Maternal decision-making through temporal uncertainties: The anticipatory biopolitics of Vosoritide in dwarfism communities.
- METTL16 Modulates GPX4 Expression to Regulate Chondrocyte Ferroptosis.
- Excess FGFR3 signaling in achondroplasia disrupts turnover of resting zone chondrocytes via CREB signaling.
- Foramen magnum stenosis, cervicomedullary decompression, and growth in children with achondroplasia: a retrospective cohort study.
- Spatiotemporal Regulation and Lineage Specification in Embryonic Endochondral Ossification.
- A Phase II Basket Trial of Vosoritide in Children with RASopathies, ACAN and NPR2 Deficiency.
- Development of a Step-By-Step Clinical Decision Tool for Difficult Spinal Anesthetics: A Case Report of a Pregnant Patient With Achondroplasia, Previous Lumbar Fusion, and Class III Obesity.
- Dkk1 inhibition restores mandibular growth in an achondroplasia mouse model.
- Achondroplasia.
- Orthodontic and Maxillofacial Surgery Treatment in Achondroplasia for Orofacial Alterations: A Systematic Review and Preliminary Age-Stratified Guidelines.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:15(Orphanet)
- OMIM OMIM:100800(OMIM)
- MONDO:0007037(MONDO)
- GARD:8173(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Artigo Wikipedia(Wikipedia)
- Q340594(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
