epiphyseal dysplasia-hearing loss-dysmorphism syndrome
ORPHA: 1825
Overview
human disease
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 epiphyseal dysplasia-hearing loss-dysmorphism syndrome, sourced from HPO and Orphanet clinical annotations.
Wide mouthEpicanthusHypertelorismFacial asymmetryLong philtrumSensorineural hearing impairmentWide nasal bridgeAnteverted naresPtosisAtypical behaviorDelayed pubertyHypopigmented skin patchesAbnormal thumb morphologyIntellectual disabilitySeizureDeep philtrumScoliosisDelayed skeletal maturationAbnormality of the wristShort statureDepressed nasal bridgeFinger syndactylyAbnormal dermatoglyphicsProximal placement of thumbAbnormal localization of kidney
Classification & Codes
Orphanet Code
ORPHA:1825epiphyseal dysplasia-hearing loss-dysmorphism syndrome
| Orphanet | ORPHA:1825 |
| Treatments | 0 drug(s) |
| Symptoms on record | 25 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO