OrphanDrug
OrphanDrug
Pharma Knowledge Base

rhizomelic chondrodysplasia punctata

MeSH: D018902ORPHA: 177

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 rhizomelic chondrodysplasia punctata, sourced from HPO and Orphanet clinical annotations.

Abnormality of the dentitionMicrocephalyEpicanthusCataractAbnormal metaphysis morphologyDry skinLimitation of joint mobilityGrowth delayAlopeciaSparse body hairScoliosisSpina bifida occultaShort statureAbnormal epiphysis morphologyIchthyosisRhizomeliaLimb undergrowthEpiphyseal stipplingSevere intellectual disabilityFlat face

Classification & Codes

MeSH Code

D018902

Orphanet Code

ORPHA:177
rhizomelic chondrodysplasia punctata
MeSHD018902
OrphanetORPHA:177
Treatments0 drug(s)
Symptoms on record20 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO