OrphanDrug
OrphanDrug
Pharma Knowledge Base

achondroplasia

MeSH: D000130ORPHA: 15

Contents

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

Overview

osteochondrodysplasia that results in dwarfism from abnormal ossification of cartilage in long bones

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 achondroplasia, sourced from HPO and Orphanet clinical annotations.

KyphosisBowing of the legsDisproportionate short statureThoracolumbar kyphosisLimb undergrowthParietal bossingMacrocephalyAbnormal midface morphologyHearing impairmentAnteverted naresBrachydactylyLimited elbow extensionFrontal bossingObstructive sleep apneaLumbar hyperlordosisShort long boneShort nasal bridgeSpinal canal stenosisTrident handDepressed nasal bridgeShort middle phalanx of fingerCervical spinal canal stenosisFloppy infantShort proximal phalanx of fingerCentral sleep apneaFunctional abnormality of the middle earKnee joint hypermobilityHip joint hypermobilityWide anterior fontanelAcanthosis nigricansObesityRestrictive ventilatory defectFlat acetabular roofNarrow greater sciatic notchThoracic hypoplasiaRhizomeliaAbnormal iliac wing morphologyHypoxemiaHydrocephalus

Classification & Codes

MeSH Code

D000130

Orphanet Code

ORPHA:15
achondroplasia
MeSHD000130
OrphanetORPHA:15
Treatments0 drug(s)
Symptoms on record39 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO