dysspondyloenchondromatosis

ORPHA: 85198

Contents

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

Overview

Dysspondyloenchondromatosis is a rare skeletal dysplasia characterized by anisospondyly and multiple enchondromas in vertebrae and the metaphyseal and diaphyseal parts of long tubular bones, leading to kyphoscoliosis and lower limb asymmetry

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 dysspondyloenchondromatosis, sourced from HPO and Orphanet clinical annotations.

PlatyspondylyIntellectual disabilityJoint dislocationCerebral calcificationScoliosisSpondylometaphyseal dysplasiaDelayed skeletal maturationKyphoscoliosisOsteoarthritisGeneralized joint hypermobilityGenu valgumAnisospondylyAbnormal fibula morphologyEnlarged jointsVertebral segmentation defectAbnormal ulnar metaphysis morphologyShort statureMultiple enchondromatosisMetaphyseal enchondromatosisPretibial blisteringLower limb asymmetryExostosesSkin erosion

Classification & Codes

Orphanet Code

ORPHA:85198

dysspondyloenchondromatosis

Orphanet	`ORPHA:85198`
Treatments	0 drug(s)
Symptoms on record	23 signs
Status	published

Factual Authority

Last Updated3/20/2026

Clinical DataHPO · Orphanet

Drug DataFDA · EMA · CDSCO