chromosome 14q11-q22 deletion syndrome
ORPHA: 261120
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 chromosome 14q11-q22 deletion syndrome, sourced from HPO and Orphanet clinical annotations.
Narrow mouthHigh palateEverted lower lip vermilionEpicanthusHypertelorismBroad foreheadSloping foreheadLong philtrumMicrognathiaDeeply set eyeBlepharophimosisMelanocytic nevusMild intellectual disabilityVentricular septal defectPatent ductus arteriosusToe syndactylyToe clinodactylyDeep philtrumExaggerated cupid's bowHighly arched eyebrowShort noseDepressed nasal bridgeSparse lateral eyebrowSevere global developmental delayPosteriorly rotated ears
Classification & Codes
Orphanet Code
ORPHA:261120chromosome 14q11-q22 deletion syndrome
| Orphanet | ORPHA:261120 |
| Treatments | 0 drug(s) |
| Symptoms on record | 25 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO