Otoonychoperoneal syndrome
MeSH: C564912ORPHA: 2793
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 Otoonychoperoneal syndrome, sourced from HPO and Orphanet clinical annotations.
DolichocephalyMacrotiaUpslanted palpebral fissureAbnormal diaphysis morphologyMild intellectual disabilityFlexion contractureAbnormal nail morphologyKnee flexion contractureUnderfolded helixAbnormal antihelix morphologyPopliteal pterygiumAplasia/Hypoplasia of the earlobesAbnormal helix morphology
Classification & Codes
MeSH Code
C564912Orphanet Code
ORPHA:2793Otoonychoperoneal syndrome
| MeSH | C564912 |
| Orphanet | ORPHA:2793 |
| Treatments | 0 drug(s) |
| Symptoms on record | 13 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO