spondyloepiphyseal dysplasia, MacDermot type

MeSH: C566659ORPHA: 163668

Overview

Spondyloepiphyseal dysplasia (SED), MacDermot type is characterized by short stature, femoral epiphyseal dysplasia, mild vertebral changes and sensorineural deafness

Available Treatments (0)

No treatments linked yet

Clinical trials or compassionate use may be available — consult a specialist.

Classification & Codes

MeSH Code

C566659

Orphanet Code

ORPHA:163668
spondyloepiphyseal dysplasia, MacDermot type
MeSHC566659
OrphanetORPHA:163668
Treatments0 drug(s)
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO