spondyloepimetaphyseal dysplasia, aggrecan type
MeSH: C567558ORPHA: 171866
Overview
Spondyloepimetaphyseal dysplasia, aggrecan type is a new form of skeletal dysplasia characterized by severe short stature, facial dysmorphism and characteristic radiographic findings
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 spondyloepimetaphyseal dysplasia, aggrecan type, sourced from HPO and Orphanet clinical annotations.
Mandibular prognathiaPosteriorly rotated earsShort neckBrachydactylyJoint hypermobilityBarrel-shaped chestAbnormal nail morphologyLumbar hyperlordosisMesomeliaRelative macrocephalyAbsent nasal bridgeRhizomeliaBroad thumbMidface retrusionHoarse voiceAbnormal respiratory system physiology
Classification & Codes
MeSH Code
C567558Orphanet Code
ORPHA:171866spondyloepimetaphyseal dysplasia, aggrecan type
| MeSH | C567558 |
| Orphanet | ORPHA:171866 |
| Treatments | 0 drug(s) |
| Symptoms on record | 16 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO