# Artrogripose múltipla congênita > Página oficial: https://raras.org/doenca/artrogripose-multipla-congenita > Fonte: Raras.org — Banco de Dados de Doenças Raras em Português (CC BY-NC-SA 4.0) > Última atualização: 2026-05-07 ## Identificadores - **ORPHA**: 1037 — https://www.orpha.net/en/disease/detail/1037 - **CID-10**: Q74.3 - **OMIM**: none — https://omim.org/entry/none ## Descrição clínica A artrogripose múltipla congênita (AMC) é um grupo de doenças caracterizadas por contraturas congênitas dos membros. Manifesta-se como limitação do movimento de múltiplas articulações dos membros ao nascimento, que geralmente não é progressiva e pode incluir fraqueza muscular e fibrose. AMC está sempre associada à diminuição do movimento fetal intrauterino que leva secundariamente às contraturas. ## Epidemiologia e herança - **Prevalência**: Unknown - **Padrão de herança**: Autosomal dominant, Autosomal recessive, Not applicable, X-linked recessive ## Sinais e sintomas (504 fenótipos HPO) - **Punho cerrado** — HPO: HP:0001188 - **Hipotonia do lactente** — HPO: HP:0008947 - **Hiperceratose palmar** — HPO: HP:0010765 - **Síndrome de Zollinger-Ellison** — HPO: HP:0002044 - **Encurvamento dos ossos longos** — HPO: HP:0006487 - **Contratura em flexão do dedo** — HPO: HP:0012785 - **Sindactilia dos dedos** — HPO: HP:0006101 - **Disfagia** — HPO: HP:0002015 - **Arreflexia dos membros inferiores** — HPO: HP:0002522 - **Aplasia/Hipoplasia da patela** — HPO: HP:0006498 - **Neuropatia axonal periférica** — HPO: HP:0003477 - **Hipotonia neonatal generalizada** — HPO: HP:0008935 - **Degeneração das células do corno anterior** — HPO: HP:0002398 - **Torcicolo muscular congênito** — HPO: HP:0005988 - **Hipoplasia da fossa glenoide** — HPO: HP:0006633 - **Reflexo primitivo** — HPO: HP:0002476 - **Aminoacidúria** — HPO: HP:0003355 - **Nevo flamígero da pálpebra** — HPO: HP:0010733 - **Pé valgo** — HPO: HP:0008081 - **Hepatite de células gigantes** — HPO: HP:0200084 - **Hidrotórax fetal** — HPO: HP:0025678 - **Comprimento do fêmur fetal curto** — HPO: HP:0011428 - **Contratura em extensão do joelho** — HPO: HP:0034672 - **Subluxação radioulnar** — HPO: HP:6000506 - **Limitação da mobilidade do joelho** — HPO: HP:0010501 - **Atraso persistente no controle cervical** — HPO: HP:0032988 - **Osso longo delgado** — HPO: HP:0003100 - **Concentração anormal de creatina quinase circulante** — HPO: HP:0040081 - **Pé torto calcaneovalgo** — HPO: HP:0001884 - **Aplasia/Hipoplasia do corpo caloso** — HPO: HP:0007370 - **Insuficiência respiratória** — HPO: HP:0002878 - **Parada cardíaca** — HPO: HP:0001695 - **Pé longo** — HPO: HP:0001833 - **Acidose metabólica** — HPO: HP:0001942 - **Anormalidade no EEG** — HPO: HP:0002353 - **Eventração diafragmática** — HPO: HP:0009110 - **Sialorreia** — HPO: HP:0002307 - **Escápula alada** — HPO: HP:0003691 - **Deficiência intelectual, grave** — HPO: HP:0010864 - **Anormalidade da fala ou vocalização** — HPO: HP:0002167 - _...e mais 464 sintomas. Ver https://raras.org/doenca/artrogripose-multipla-congenita._ ## Genes associados (30) - **KIF21A** — Kinesin-like protein KIF21A [Candidate gene tested in] - Função: Processive microtubule plus-end directed motor protein involved in neuronal axon guidance. Is recruited by KANK1 to cortical microtubule stabilizing complexes (CMSCs) at focal adhesions (FAs) rims whe - **MYBPC1** — Myosin-binding protein C, slow-type [Candidate gene tested in] - Função: Thick filament-associated protein located in the crossbridge region of vertebrate striated muscle a bands. Slow skeletal protein that binds to both myosin and actin (PubMed:31025394, PubMed:31264822). - **TOR1A** — Torsin-1A [Disease-causing germline mutation(s) in] - Função: Protein with chaperone functions important for the control of protein folding, processing, stability and localization as well as for the reduction of misfolded protein aggregates. Involved in the regu - **DOK7** — Protein Dok-7 [Disease-causing germline mutation(s) in] - Função: Probable muscle-intrinsic activator of MUSK that plays an essential role in neuromuscular synaptogenesis. Acts in aneural activation of MUSK and subsequent acetylcholine receptor (AchR) clustering in - **GLDN** — Gliomedin [Candidate gene tested in] - Função: Ligand for NRCAM and NFASC/neurofascin that plays a role in the formation and maintenance of the nodes of Ranvier on myelinated axons. Mediates interaction between Schwann cell microvilli and axons vi - **SYNE1** — Nesprin-1 [Disease-causing germline mutation(s) in] - Função: Multi-isomeric modular protein which forms a linking network between organelles and the actin cytoskeleton to maintain the subcellular spatial organization. As a component of the LINC (LInker of Nucle - **KIF14** — Kinesin-like protein KIF14 [Disease-causing germline mutation(s) in] - Função: Microtubule motor protein that binds to microtubules with high affinity through each tubulin heterodimer and has an ATPase activity (By similarity). Plays a role in many processes like cell division, - **UBA1** — Ubiquitin-like modifier-activating enzyme 1 [Disease-causing germline mutation(s) in] - Função: Catalyzes the first step in ubiquitin conjugation to mark cellular proteins for degradation through the ubiquitin-proteasome system (PubMed:1447181, PubMed:1606621, PubMed:33108101). Activates ubiquit - **ZC4H2** — Zinc finger C4H2 domain-containing protein [Disease-causing germline mutation(s) in] - Função: Plays a role in interneurons differentiation (PubMed:26056227). Involved in neuronal development and in neuromuscular junction formation - **SCYL2** — SCY1-like protein 2 [Disease-causing germline mutation(s) in] - Função: Component of the AP2-containing clathrin coat that may regulate clathrin-dependent trafficking at plasma membrane, TGN and endosomal system (Probable). A possible serine/threonine-protein kinase towar - **THOC2** — THO complex subunit 2 [Disease-causing germline mutation(s) in] - Função: Component of the THO subcomplex of the TREX complex which is thought to couple mRNA transcription, processing and nuclear export, and which specifically associates with spliced mRNA and not with unspl - **GLE1** — mRNA export factor GLE1 [Disease-causing germline mutation(s) in] - Função: Required for the export of mRNAs containing poly(A) tails from the nucleus into the cytoplasm. May be involved in the terminal step of the mRNA transport through the nuclear pore complex (NPC) - **COL25A1** — Collagen alpha-1(XXV) chain [Candidate gene tested in] - Função: Inhibits fibrillization of amyloid-beta peptide during the elongation phase. Has also been shown to assemble amyloid fibrils into protease-resistant aggregates. Binds heparin - **VIPAS39** — Spermatogenesis-defective protein 39 homolog [Disease-causing germline mutation(s) in] - Função: Proposed to be involved in endosomal maturation implicating in part VPS33B. In epithelial cells, the VPS33B:VIPAS39 complex may play a role in the apical RAB11A-dependent recycling pathway and in the - **VPS33B** — Vacuolar protein sorting-associated protein 33B [Disease-causing germline mutation(s) in] - Função: May play a role in vesicle-mediated protein trafficking to lysosomal compartments and in membrane docking/fusion reactions of late endosomes/lysosomes. Required for proper trafficking and targeting of ## Ensaios clínicos ativos (5) - **NCT07429188** [RECRUITING]: Impact Study on Users of Upper Limb Assistive Devices — https://clinicaltrials.gov/study/NCT07429188 - **NCT06938542** [ENROLLING_BY_INVITATION]: Palliative Care Needs of Children With Rare Diseases and Their Families — https://clinicaltrials.gov/study/NCT06938542 - **NCT04798378** [ACTIVE_NOT_RECRUITING]: NuroSleeve Powered Brace & Stimulation System to Restore Arm Function — https://clinicaltrials.gov/study/NCT04798378 - **NCT06192134** [NOT_YET_RECRUITING]: Continuous Passive Motion Device for Children With Arthrogryposis — https://clinicaltrials.gov/study/NCT06192134 - **NCT07360574** [NOT_YET_RECRUITING]: Piezo2-related Arthrogryposis & physiopathOLOgy 3 — https://clinicaltrials.gov/study/NCT07360574 - **NCT04789746** [UNKNOWN]: Ready, Set, Go! A Physical Fitness Intervention for Children With Mobility Challenges — https://clinicaltrials.gov/study/NCT04789746 - **NCT02218593** [COMPLETED]: WREX Outcome Study — https://clinicaltrials.gov/study/NCT02218593 - **NCT06130592** [UNKNOWN]: Technical Feasibility Study of Ultrasound Muscle Imaging in Antenatal Ultrasound — https://clinicaltrials.gov/study/NCT06130592 - **NCT05673265** [UNKNOWN]: Pediatric and Adult Registry for Patients With ARThrogryposis — https://clinicaltrials.gov/study/NCT05673265 - **NCT05393375** [COMPLETED]: Arthrogryposis Multiplex Congenita in Pediatric Age: Correlation Between MUScular MRI and Functional Evaluation — https://clinicaltrials.gov/study/NCT05393375 ## Centros de referência no Brasil (24) - Hospital Universitário Prof. Edgard Santos (HUPES) (Salvador/BA) - Hospital Infantil Albert Sabin (Fortaleza/CE) - Hospital de Apoio de Brasília (HAB) (Brasília/DF) - Hospital Estadual Infantil e Maternidade Alzir Bernardino Alves (HIABA) (Vila Velha/ES) - Hospital das Clínicas da UFG (Goiânia/GO) - Hospital Universitário da UFJF (Juiz de Fora/MG) - Hospital das Clínicas da UFMG (Belo Horizonte/MG) - Hospital Universitário Julio Müller (HUJM) (Cuiabá/MT) - Hospital Universitário João de Barros Barreto (Belém/PA) - Hospital Universitário Lauro Wanderley (HULW) (João Pessoa/PB) - Instituto de Medicina Integral Prof. Fernando Figueira (IMIP) (Recife/PE) - Hospital Pequeno Príncipe (Curitiba/PR) - Hospital Universitário Regional de Maringá (HUM) (Maringá/PR) - Hospital de Clínicas da UFPR (Curitiba/PR) - Hospital Universitário Pedro Ernesto (HUPE-UERJ) (Rio de Janeiro/RJ) - Instituto Nacional de Saúde da Mulher, da Criança e do Adolescente Fernandes Figueira (IFF/Fiocruz) (Rio de Janeiro/RJ) - Hospital São Lucas da PUCRS (Porto Alegre/RS) - Hospital de Clínicas de Porto Alegre (HCPA) (Porto Alegre/RS) - Hospital Universitário da UFSC (HU-UFSC) (Florianópolis/SC) - Hospital das Clínicas da FMUSP (São Paulo/SP) ## Doenças relacionadas (por similaridade fenotípica) - [Síndrome de blefarofimose-perturbação do desenvolvimento intelectual](https://raras.org/doenca/sindrome-de-blefarofimose-perturbacao-do-desenvolvimento-intelectual) — ORPHA:293642 — 105 sintomas em comum - [Síndrome de hipotonia-transtorno da linguagem-transtorno do desenvolvimento intelectual grave](https://raras.org/doenca/sindrome-de-hipotonia-transtorno-da-linguagem-transtorno-do-desenvolvimento-intelectual-grave) — ORPHA:371364 — 99 sintomas em comum - [Miopatia nemalínica](https://raras.org/doenca/miopatia-nemalinica) — ORPHA:607 — 98 sintomas em comum - [Deficiência qualitativa ou quantitativa da tropomiosina](https://raras.org/doenca/deficiencia-qualitativa-ou-quantitativa-da-tropomiosina) — ORPHA:284790 — 96 sintomas em comum - [Síndrome Walker-Warburg](https://raras.org/doenca/899) — ORPHA:899 — 95 sintomas em comum - [Artrogripose múltipla congênita tipo neurogênico](https://raras.org/doenca/artrogripose-multipla-congenita-tipo-neurogenico) — ORPHA:1143 — 95 sintomas em comum - [Monossomia parcial do cromossomo 3](https://raras.org/doenca/monossomia-parcial-do-cromossomo-3) — ORPHA:261776 — 94 sintomas em comum - [Síndrome aneuploidia variada em mosaico](https://raras.org/doenca/sindrome-aneuploidia-variada-em-mosaico) — ORPHA:1052 — 92 sintomas em comum - [Deficiências qualitativas e quantitativas da alfa-actina](https://raras.org/doenca/deficiencias-qualitativas-e-quantitativas-da-alfa-actina) — ORPHA:209059 — 91 sintomas em comum - [Síndrome Marden-Walker](https://raras.org/doenca/sindrome-marden-walker) — ORPHA:2461 — 91 sintomas em comum ## Importante O Raras **não diagnostica e não prescreve**. Esta página é educativa e informativa. Pacientes devem consultar profissionais de saúde qualificados para decisões clínicas. --- **Citação sugerida**: Raras.org — Artrogripose múltipla congênita. Disponível em: https://raras.org/doenca/artrogripose-multipla-congenita **Formato HTML**: https://raras.org/doenca/artrogripose-multipla-congenita **Formato RDF/Turtle**: https://raras.org/api/rdf?orpha=1037