otofaciocervical syndrome
ORPHA: 27923 Treatments Available
Overview
medical condition
Available Treatments (3)
| Drug | Form | Status | Countries | Lead Time |
|---|---|---|---|---|
| Growth hormone (somatropin) Orphan Cold Chain | Subcutaneous injection, 5mg, 12mg cartridges | FDA Approved | 8 | 14d |
| Multivitamin with Calcium and Vitamin D | Oral tablets, chewable tablets, liquid suspension | OTC - Multiple jurisdictions | 9 | 1d |
| Occupational and Physical Therapy Support | Therapeutic sessions, adaptive devices, orthotics | Standard of Care | 9 | 14d |
Clinical Presentation
Signs and symptoms associated with otofaciocervical syndrome, 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
| Orphanet | ORPHA:2792 |
| Treatments | 3 drug(s) |
| Symptoms on record | 23 signs |
| Status | published |
Treatment Summary
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO