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Ehlers-Danlos syndrome, spondylocheirodysplastic type

MeSH: C567340ORPHA: 157965

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, spondylocheirodysplastic type, sourced from HPO and Orphanet clinical annotations.

Downslanted palpebral fissuresProptosisBlue scleraePlatyspondylyOsteopeniaAbnormal metaphysis morphologyThin skinHyperextensible skinBruising susceptibilityTapered fingerFlexion contractureFailure to thriveSkeletal dysplasiaFlattened epiphysisFlat capital femoral epiphysisThenar muscle atrophyBroad femoral neckModerately short statureAbsent palmar creaseShort femoral neck

Classification & Codes

MeSH Code

C567340

Orphanet Code

ORPHA:157965
Ehlers-Danlos syndrome, spondylocheirodysplastic type
MeSHC567340
OrphanetORPHA:157965
Treatments0 drug(s)
Symptoms on record20 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO