type I Ehlers-Danlos syndrome

MeSH: C536194ORPHA: 287

Overview

Human disease

Available Treatments (0)

No treatments linked yet

Clinical trials or compassionate use may be available — consult a specialist.

Clinical Presentation

Signs and symptoms associated with type I Ehlers-Danlos syndrome, sourced from HPO and Orphanet clinical annotations.

Hyperextensible skinSoft, doughy skinFragile skinStriae distensaeCigarette-paper scarsAtrophic scarsGeneralized joint hypermobilityOsteopeniaPoor wound healingHypotoniaMuscle weaknessVomitingNauseaGastroesophageal refluxMuscle spasmPulp calcificationFatigueChronic constipationBladder diverticulumInguinal herniaUterine prolapseEpicanthusAbnormal cornea morphologyBruising susceptibilityMolluscoid pseudotumorsAcrocyanosisMotor delayJoint swellingUmbilical herniaPremature birthAbnormal foot morphologyTalipes equinovarusPes planusPremature rupture of membranesRectal prolapseHiatus herniaAortic root aneurysmScoliosisOsteoarthritisHip dislocationArthralgiaPatellar dislocationProlonged bleeding timeDislocated radial headShoulder dislocationIncisional herniaDilatation of the cerebral arteryArteriovenous fistulaArterial dissectionPhalangeal dislocationPrematurely aged appearanceLimb painBlepharochalasisDermatochalasisAbnormality of the temporomandibular jointSubcutaneous spheroidsArterial rupturePiezogenic pedal papulesCervical insufficiencyEcchymosisAbnormal heart valve physiologyOrthostatic hypotensionMitral valve prolapseMitral regurgitationTricuspid valve prolapseHeadache

Classification & Codes

MeSH Code

C536194

Orphanet Code

ORPHA:287
type I Ehlers-Danlos syndrome
MeSHC536194
OrphanetORPHA:287
Treatments0 drug(s)
Symptoms on record66 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO