Stickler syndrome
ICD-10: Q89.8MeSH: C537492ORPHA: 2662
Overview
rare genetic disorder affecting collagen
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 Stickler 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
C537492Orphanet Code
ORPHA:2662Stickler syndrome
| ICD-10 | Q89.8 |
| MeSH | C537492 |
| 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