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spondyloepimetaphyseal dysplasia, matrilin-3 type

MeSH: C563869ORPHA: 156728

Contents

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

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 spondyloepimetaphyseal dysplasia, matrilin-3 type, sourced from HPO and Orphanet clinical annotations.

Bowing of the legsShort statureLimb undergrowthLimited elbow extensionWaddling gaitLumbar hyperlordosisDisproportionate short-limb short staturePectus excavatumEnlarged jointsThoracic hypoplasiaFlat face

Classification & Codes

MeSH Code

C563869

Orphanet Code

ORPHA:156728
spondyloepimetaphyseal dysplasia, matrilin-3 type
MeSHC563869
OrphanetORPHA:156728
Treatments0 drug(s)
Symptoms on record11 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO
spondyloepimetaphyseal dysplasia, matrilin-3 type | OrphanDrug