ring chromosome 16
ORPHA: 96178
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 ring chromosome 16, sourced from HPO and Orphanet clinical annotations.
Short philtrumMicrognathiaTelecanthusSynophrysAutistic behaviorSeizureGlobal developmental delayFailure to thrive in infancyAbnormal heart morphologyTalipes equinovarusHypoplasia of the corpus callosumB Acute Lymphoblastic LeukemiaMicrocephalyLow-set earsWide nasal bridgeDelayed speech and language developmentIntellectual disabilityDownturned corners of mouthPostnatal growth retardation
Classification & Codes
Orphanet Code
ORPHA:96178ring chromosome 16
| Orphanet | ORPHA:96178 |
| Treatments | 0 drug(s) |
| Symptoms on record | 19 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO