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Stickler syndrome type 1

MeSH: C537492ORPHA: 90653

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 Stickler syndrome type 1, sourced from HPO and Orphanet clinical annotations.

Hypoplasia of the maxillaLong philtrumCataractRetinal detachmentMyopiaSkeletal dysplasiaShort noseAbnormal vitreous humor morphologyCleft palateSensorineural hearing impairmentProptosisPlatyspondylyMitral valve prolapseOsteoarthritisArthralgiaAbnormal epiphysis morphologyAbnormal vertebral epiphysis morphologyTympanic membrane hypermobilityVisual lossIntellectual disabilityJoint hypermobility

Classification & Codes

MeSH Code

C537492

Orphanet Code

ORPHA:90653
Stickler syndrome type 1
MeSHC537492
OrphanetORPHA:90653
Treatments0 drug(s)
Symptoms on record21 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO