CHARGE syndrome
ICD-10: Q89.8MeSH: D058747ORPHA: 2662
Overview
syndrome that is characterized by a pattern of congenital anomalies including choanal atresia and malformations of the heart, inner ear, and retina
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 CHARGE syndrome, sourced from HPO and Orphanet clinical annotations.
HypertelorismBroad foreheadSensorineural hearing impairmentProminent nasal bridgeDepressed nasal bridgeBroad distal phalanx of fingerShort distal phalanx of fingerBroad hallux phalanxShort halluxAplasia/Hypoplasia of the distal phalanges of the toesBroad thumbMacrocephalyEpicanthusHypoplasia of the maxillaPtosisHoarse voiceExaggerated cupid's bowClinodactyly of the 5th fingerAplastic/hypoplastic toenailTented upper lip vermilionAbnormal cardiovascular system morphologyAtypical behaviorShort statureCognitive impairment
Classification & Codes
ICD-10 Code
Q89.8MeSH Code
D058747Orphanet Code
ORPHA:2662CHARGE syndrome
| ICD-10 | Q89.8 |
| MeSH | D058747 |
| Orphanet | ORPHA:2662 |
| Treatments | 0 drug(s) |
| Symptoms on record | 24 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO