acromesomelic dysplasia, Maroteaux type
MeSH: C535661ORPHA: 40
Overview
acromesomelic dysplasia that has material basis in mutation in NPR-B receptor which results in severe dwarfism, abnormalities of the located in vertebral column and shortening of middle and distal segments in the located in limb
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 acromesomelic dysplasia, Maroteaux type, sourced from HPO and Orphanet clinical annotations.
Joint hypermobilityDolichocephalySprengel anomalyBrachydactylyJoint stiffnessFrontal bossingScoliosisKyphosisAcromesomeliaOvoid vertebral bodiesHyperlordosisAbnormal form of the vertebral bodiesDisproportionate short statureBeaking of vertebral bodiesDepressed nasal bridgeBowing of the long bonesVertebral wedgingProminent forehead
Classification & Codes
MeSH Code
C535661Orphanet Code
ORPHA:40acromesomelic dysplasia, Maroteaux type
| MeSH | C535661 |
| Orphanet | ORPHA:40 |
| Treatments | 0 drug(s) |
| Symptoms on record | 18 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO