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multiple epiphyseal dysplasia, Lowry type

MeSH: C563291ORPHA: 166016

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

HypertelorismMicrognathiaBroad nasal tipUpslanted palpebral fissureAbnormal sternum morphologyBrachydactylyScoliosisEpiphyseal dysplasiaDelayed epiphyseal ossificationGenu valgumFibular hypoplasiaFlattened epiphysisDislocated radial headShort statureRhizomeliaSmall epiphysesFragmented epiphysesCleft hard palateKnee flexion contractureFixed elbow flexion

Classification & Codes

MeSH Code

C563291

Orphanet Code

ORPHA:166016
multiple epiphyseal dysplasia, Lowry type
MeSHC563291
OrphanetORPHA:166016
Treatments0 drug(s)
Symptoms on record20 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO
multiple epiphyseal dysplasia, Lowry type | OrphanDrug