OrphanDrug
OrphanDrug
Pharma Knowledge Base

Jansen's metaphyseal chondrodysplasia

MeSH: C537564ORPHA: 33067

Contents

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

Overview

metaphyseal dysplasia that has material basis in mutation in PTH receptor which results in short-limbed dwarfism

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 Jansen's metaphyseal chondrodysplasia, sourced from HPO and Orphanet clinical annotations.

High palateHypertelorismMicrognathiaOsteopeniaHypophosphatemiaHypercalciuriaWaddling gaitSclerosis of skull baseThin bony cortexHypercalcemiaHydroxyprolinuriaElevated circulating alkaline phosphatase concentrationBowing of the long bonesDisproportionate short-limb short statureNephrocalcinosisFull cheeksDownslanted palpebral fissuresProptosisThin ribsNeonatal respiratory distressFeeding difficulties in infancyWide cranial suturesJoint contractureBilateral choanal atresia/stenosis

Classification & Codes

MeSH Code

C537564

Orphanet Code

ORPHA:33067
Jansen's metaphyseal chondrodysplasia
MeSHC537564
OrphanetORPHA:33067
Treatments0 drug(s)
Symptoms on record24 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO