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Ehlers-Danlos syndrome due to tenascin-X deficiency

MeSH: C536193ORPHA: 230839

Contents

  1. 1. Overview
  2. 2. Available Treatments
  3. 3. Clinical Presentation
  4. 4. Classification & Codes

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 Ehlers-Danlos syndrome due to tenascin-X deficiency, sourced from HPO and Orphanet clinical annotations.

Sensory neuropathyAdrenal hypoplasiaThin skinHyperextensible skinBruising susceptibilityHypotoniaStrokeMuscle weaknessJoint hypermobilityMitral valve prolapseGastrointestinal hemorrhageArthralgiaSkeletal muscle atrophySpina bifida occultaMyalgiaProximal muscle weaknessPrecocious atherosclerosisPeripheral neuropathyArrhythmiaFatigue

Classification & Codes

MeSH Code

C536193

Orphanet Code

ORPHA:230839
Ehlers-Danlos syndrome due to tenascin-X deficiency
MeSHC536193
OrphanetORPHA:230839
Treatments0 drug(s)
Symptoms on record20 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO