deafness-epiphyseal dysplasia-short stature syndrome
MeSH: C535928ORPHA: 3218
Overview
This syndrome is characterised by sensorineural deafness, short stature, femoral epiphyseal dysplasia, umbilical and inguinal hernias and developmental delay (growth retardation and mild intellectual deficit)
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 deafness-epiphyseal dysplasia-short stature syndrome, sourced from HPO and Orphanet clinical annotations.
Inguinal herniaPointed chinTriangular faceHearing impairmentShort neckRetinal detachmentMyopiaNasolacrimal duct obstructionBrachydactylyMild intellectual disabilityGlobal developmental delayUmbilical herniaFrontal bossingAbnormal speech patternHyperlordosisAbnormal form of the vertebral bodiesShort statureAbnormal femoral epiphysis morphologyShort thorax
Classification & Codes
MeSH Code
C535928Orphanet Code
ORPHA:3218deafness-epiphyseal dysplasia-short stature syndrome
| MeSH | C535928 |
| Orphanet | ORPHA:3218 |
| Treatments | 0 drug(s) |
| Symptoms on record | 19 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO