otofaciocervical syndrome 1
ORPHA: 2792
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 otofaciocervical syndrome 1, sourced from HPO and Orphanet clinical annotations.
High palateFull cheeksFacial asymmetryMacrotiaConductive hearing impairmentProtruding earAtresia of the external auditory canalAnteverted naresAbnormal clavicle morphologyIntellectual disabilityGlobal developmental delayHypertoniaHyperreflexiaAbnormal speech patternDelayed skeletal maturationScapular wingingShort staturePreauricular pitDepressed nasal bridgeAbnormal dermatoglyphicsRenal hypoplasia/aplasiaAbnormal antihelix morphologyDown-sloping shoulders
Classification & Codes
Orphanet Code
ORPHA:2792otofaciocervical syndrome 1
| Orphanet | ORPHA:2792 |
| Treatments | 0 drug(s) |
| Symptoms on record | 23 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO