OrphanDrug
OrphanDrug
Pharma Knowledge Base

rhizomelic dysplasia, Patterson-Lowry type

MeSH: C537609ORPHA: 2831

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 rhizomelic dysplasia, Patterson-Lowry type, sourced from HPO and Orphanet clinical annotations.

EpicanthusMandibular prognathiaWide noseDepressed nasal ridgeBrachydactylyCoxa varaGenu valgumShort noseHyperlordosisAbnormal form of the vertebral bodiesDeviation of fingerDeformed humeral headsShort humerusRhizomeliaShort metacarpalFlat faceLarge face

Classification & Codes

MeSH Code

C537609

Orphanet Code

ORPHA:2831
rhizomelic dysplasia, Patterson-Lowry type
MeSHC537609
OrphanetORPHA:2831
Treatments0 drug(s)
Symptoms on record17 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO