# Síndrome Ehlers-Danlos > Página oficial: https://raras.org/doenca/sindrome-ehlers-danlos > Fonte: Raras.org — Banco de Dados de Doenças Raras em Português (CC BY-NC-SA 4.0) > Última atualização: 2026-05-07 ## Identificadores - **ORPHA**: 98249 — https://www.orpha.net/en/disease/detail/98249 - **CID-10**: Q79.6 - **OMIM**: none — https://omim.org/entry/none ## Descrição clínica As Síndromes de Ehlers-Danlos (SED) são um grupo de doenças hereditárias (que passam de pais para filhos) que afetam o tecido conjuntivo do corpo. Elas têm características clínicas (sintomas) e genéticas (causas nos genes) muito variadas, e são marcadas principalmente por articulações excessivamente flexíveis (que se movem mais do que o normal), pele que estica muito (mais elástica que o comum) e tecidos mais frágeis. ## Epidemiologia e herança - **Prevalência**: Unknown - **Padrão de herança**: Autosomal dominant, Autosomal recessive, X-linked recessive ## Sinais e sintomas (657 fenótipos HPO) - **Hálux valgo** — HPO: HP:0001822 - **Aparência facial progeroide** — HPO: HP:0005328 - **Torção testicular** — HPO: HP:0100813 - **Lipodistrofia** — HPO: HP:0009125 - **Atraso de crescimento** — HPO: HP:0001510 - **Ausência de prega palmar** — HPO: HP:0010489 - **Morfologia metafisária anormal** — HPO: HP:0000944 - **Anormalidade dos dentes decíduos** — HPO: HP:0006481 - **Sobrancelha esparsa** — HPO: HP:0045075 - **Cílios esparsos** — HPO: HP:0000653 - **Displasia esquelética** — HPO: HP:0002652 - **Mácula hiperpigmentada** — HPO: HP:0001034 - **Atrofia das cristas alveolares** — HPO: HP:0006308 - **Agenesia dos dentes permanentes** — HPO: HP:0006349 - **Flacidez muscular** — HPO: HP:0010547 - **Morfologia anormal do coração** — HPO: HP:0001627 - **Cifose cervical** — HPO: HP:0002947 - **Morfologia anormal do esterno** — HPO: HP:0000766 - **Nefrolitíase** — HPO: HP:0000787 - **Hemorragia subcutânea** — HPO: HP:0001933 - **Má rotação do intestino delgado** — HPO: HP:0004794 - **Dedo afilado** — HPO: HP:0001238 - **Anormalidade funcional da bexiga** — HPO: HP:0000009 - **Rim em ferradura** — HPO: HP:0000085 - **Fenda labial** — HPO: HP:0410030 - **Hipertensão ocular** — HPO: HP:0007906 - **Pregas palmares diminuídas** — HPO: HP:0006184 - **Sulco nasolabial proeminente** — HPO: HP:0005272 - **Anormalidade da coluna cervical** — HPO: HP:0003319 - **Anormalidade da morfologia do mesentério** — HPO: HP:0100016 - **Anormalidade da pigmentação capilar** — HPO: HP:0009887 - **Distrofia corneana** — HPO: HP:0001131 - **Cicatriz corneana** — HPO: HP:0000559 - **Anormalidade da morfologia da epífise** — HPO: HP:0005930 - **Perda da deambulação** — HPO: HP:0002505 - **Mialgia induzida por exercício** — HPO: HP:0003738 - **Erosão corneana** — HPO: HP:0200020 - **Hipoplasia adrenal** — HPO: HP:0000835 - **Neuropatia sensorial** — HPO: HP:0000763 - **Escoliose toracolombar** — HPO: HP:0002944 - _...e mais 617 sintomas. Ver https://raras.org/doenca/sindrome-ehlers-danlos._ ## Genes associados (23) - **COL1A1** — Collagen alpha-1(I) chain [Disease-causing germline mutation(s) in] - Função: Type I collagen is a member of group I collagen (fibrillar forming collagen) - **FLNA** — Filamin-A [Candidate gene tested in] - Função: Promotes orthogonal branching of actin filaments and links actin filaments to membrane glycoproteins. Anchors various transmembrane proteins to the actin cytoskeleton and serves as a scaffold for a wi - **ADAMTSL2** — ADAMTS-like protein 2 [Candidate gene tested in] - **PRDM5** — PR domain zinc finger protein 5 [Disease-causing germline mutation(s) in] - Função: Sequence-specific DNA-binding transcription factor. Represses transcription at least in part by recruitment of the histone methyltransferase EHMT2/G9A and histone deacetylases such as HDAC1. Regulates - **ZNF469** — Zinc finger protein 469 [Disease-causing germline mutation(s) in] - Função: May be involved in transcriptional regulation - **DSE** — Dermatan-sulfate epimerase [Disease-causing germline mutation(s) in] - Função: Converts D-glucuronic acid to L-iduronic acid (IdoUA) residues. Plays an important role in the biosynthesis of the glycosaminoglycan/mucopolysaccharide dermatan sulfate - **ADAMTS2** — A disintegrin and metalloproteinase with thrombospondin motifs 2 [Disease-causing germline mutation(s) in] - Função: Cleaves the propeptides of type I and II collagen prior to fibril assembly (By similarity). Does not act on type III collagen (By similarity). Cleaves lysyl oxidase LOX at a site downstream of its pro - **COL5A1** — Collagen alpha-1(V) chain [Disease-causing germline mutation(s) in] - Função: Type V collagen is a member of group I collagen (fibrillar forming collagen). It is a minor connective tissue component of nearly ubiquitous distribution. Type V collagen binds to DNA, heparan sulfate - **COL12A1** — Collagen alpha-1(XII) chain [Disease-causing germline mutation(s) in] - Função: Type XII collagen interacts with type I collagen-containing fibrils, the COL1 domain could be associated with the surface of the fibrils, and the COL2 and NC3 domains may be localized in the perifibri - **THBS2** — Thrombospondin-2 [Disease-causing germline mutation(s) in] - Função: Adhesive glycoprotein that mediates cell-to-cell and cell-to-matrix interactions. Ligand for CD36 mediating antiangiogenic properties - **COL3A1** — Collagen alpha-1(III) chain [Disease-causing germline mutation(s) in] - Função: Collagen type III occurs in most soft connective tissues along with type I collagen. Involved in regulation of cortical development. Is the major ligand of ADGRG1 in the developing brain and binding t - **B3GALT6** — Beta-1,3-galactosyltransferase 6 [Disease-causing germline mutation(s) in] - Função: Beta-1,3-galactosyltransferase that transfers galactose from UDP-galactose to substrates with a terminal beta-linked galactose residue. Has a preference for galactose-beta-1,4-xylose that is found in - **CHST14** — Carbohydrate sulfotransferase 14 [Disease-causing germline mutation(s) in] - Função: Catalyzes the transfer of sulfate to position 4 of the N-acetylgalactosamine (GalNAc) residue of dermatan sulfate. Plays a pivotal role in the formation of 4-0-sulfated IdoA blocks in dermatan sulfate - **COL5A2** — Collagen alpha-2(V) chain [Disease-causing germline mutation(s) in] - Função: Type V collagen is a member of group I collagen (fibrillar forming collagen). It is a minor connective tissue component of nearly ubiquitous distribution. Type V collagen binds to DNA, heparan sulfate - **PLOD1** — Procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 [Disease-causing germline mutation(s) in] - Função: Part of a complex composed of PLOD1, P3H3 and P3H4 that catalyzes hydroxylation of lysine residues in collagen alpha chains and is required for normal assembly and cross-linkling of collagen fibrils ( ## Ensaios clínicos ativos (26) - **NCT07516496** [RECRUITING]: Metabolic Phenotyping in vEDS — https://clinicaltrials.gov/study/NCT07516496 - **NCT05212129** [RECRUITING]: Auricular Vagal Nerve Stimulation for Hypermobile Ehlers-Danlos Syndrome — https://clinicaltrials.gov/study/NCT05212129 - **NCT04806620** [RECRUITING]: Unhide® Project: A Digital Health Platform to Collect Lifestyle Data for Brain Inflammation Research — https://clinicaltrials.gov/study/NCT04806620 - **NCT06546137** [RECRUITING]: National Network for Cardiovascular Genomics: Advancing Cardiovascular Healthcare for Hereditary Diseases in Brazil's Unified Health System Through a Multicenter Registry — https://clinicaltrials.gov/study/NCT06546137 - **NCT04133272** [RECRUITING]: Registry of Ehlers-Danlos Syndrome — https://clinicaltrials.gov/study/NCT04133272 - **NCT02050113** [RECRUITING]: Complex Aortic Aneurysm Repair Using Physician Modified Endografts and Custom Made Devices — https://clinicaltrials.gov/study/NCT02050113 - **NCT05432466** [RECRUITING]: Clinical Trial to Compare the Efficacy of Celiprolol to Placebo in Patients With Vascular Ehlers-Danlos Syndrome — https://clinicaltrials.gov/study/NCT05432466 - **NCT05871216** [RECRUITING]: Functional Instability in Patients Suffering From Collagen Disease and Joint Hypermobility — https://clinicaltrials.gov/study/NCT05871216 - **NCT04310644** [RECRUITING]: Autonomic Small Fiber Neuropathy and Ehlers Danlos Syndromes - Prospective Study and Registry — https://clinicaltrials.gov/study/NCT04310644 - **NCT06539169** [RECRUITING]: FLOWER: Following Longitudinal Outcomes With Epidemiology for Rare Diseases — https://clinicaltrials.gov/study/NCT06539169 ## 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 Ehlers-Danlos espondilodisplásico B4GALT7-relacionado](https://raras.org/doenca/sindrome-ehlers-danlos-espondilodisplasico-b4galt7-relacionado) — ORPHA:75496 — 175 sintomas em comum - [Síndrome Ehlers-Danlos vascular](https://raras.org/doenca/sindrome-ehlers-danlos-vascular) — ORPHA:286 — 128 sintomas em comum - [Síndrome Ehlers-Danlos músculo-contratural](https://raras.org/doenca/sindrome-ehlers-danlos-musculo-contratural) — ORPHA:2953 — 116 sintomas em comum - [Síndrome Ehlers-Danlos espondilodisplásico B3GALT6-relacionado](https://raras.org/doenca/sindrome-ehlers-danlos-espondilodisplasico-b3galt6-relacionado) — ORPHA:536467 — 109 sintomas em comum - [Síndrome Loyes-Dietz](https://raras.org/doenca/sindrome-loyes-dietz) — ORPHA:60030 — 107 sintomas em comum - [Síndrome Ehlers-Danlos espondilodisplásico](https://raras.org/doenca/sindrome-ehlers-danlos-espondilodisplasico) — ORPHA:536471 — 105 sintomas em comum - [Síndrome Ehlers-Danlos tipo 6 cifoscoliótico por deficiência de lisil hidroxilase](https://raras.org/doenca/sindrome-ehlers-danlos-tipo-6-cifoscoliotico-por-deficiencia-de-lisil-hidroxilase) — ORPHA:1900 — 96 sintomas em comum - [Monossomia parcial do cromossomo 19](https://raras.org/doenca/monossomia-parcial-do-cromossomo-19) — ORPHA:261841 — 92 sintomas em comum - [Síndrome Ehlers-Danlos semelhante ao clássico tipo 2](https://raras.org/doenca/sindrome-ehlers-danlos-semelhante-ao-classico-tipo-2) — ORPHA:536532 — 91 sintomas em comum - [Síndrome Ehlers-Danlos clássico](https://raras.org/doenca/sindrome-ehlers-danlos-classico) — ORPHA:287 — 89 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 — Síndrome Ehlers-Danlos. Disponível em: https://raras.org/doenca/sindrome-ehlers-danlos **Formato HTML**: https://raras.org/doenca/sindrome-ehlers-danlos **Formato RDF/Turtle**: https://raras.org/api/rdf?orpha=98249