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multiple epiphyseal dysplasia 5

MeSH: C535505ORPHA: 93311

Contents

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

Overview

multiple epiphyseal dysplasia that has material basis in heterozygous mutation in the MATN3 gene on chromosome 2p24

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 multiple epiphyseal dysplasia 5, sourced from HPO and Orphanet clinical annotations.

Hip dysplasiaDelayed proximal femoral epiphyseal ossificationGait disturbanceAbnormal hip joint morphologyGenu valgumGenu varumPremature osteoarthritisMild short statureAbnormal upper limb epiphysis morphologyAbnormality of the epiphyses of the feetKnee painJoint stiffnessAbnormal acetabulum morphologyDecreased hip abductionArthralgia of the hipOsteoarthritis of the small joints of the handAvascular necrosis of the capital femoral epiphysisMultiple small vertebral fracturesIntervertebral disk degenerationLimited hip movementAnkle painBack pain

Classification & Codes

MeSH Code

C535505

Orphanet Code

ORPHA:93311
multiple epiphyseal dysplasia 5
MeSHC535505
OrphanetORPHA:93311
Treatments0 drug(s)
Symptoms on record22 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO