ring chromosome 22
MeSH: C536795ORPHA: 1446
Overview
rare chromosomal disorder
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 22, sourced from HPO and Orphanet clinical annotations.
AzoospermiaMicrocephalyDolichocephalyLong faceEpicanthusFull cheeksPointed chinMacrotiaBulbous noseThick eyebrowInappropriate behaviorAutistic behaviorDelayed speech and language developmentEdemaLymphedemaNeurofibromaLarge handsSeizureGlobal developmental delayGeneralized hypotoniaGrowth delayGait ataxiaDevelopmental regression2-3 toe syndactylyImpaired pain sensationProtruding tongueMidface retrusionThick vermilion borderWide nasal baseToenail dysplasiaAgenesis of corpus callosumAbsent septum pellucidumPleural effusion
Classification & Codes
MeSH Code
C536795Orphanet Code
ORPHA:1446ring chromosome 22
| MeSH | C536795 |
| Orphanet | ORPHA:1446 |
| Treatments | 0 drug(s) |
| Symptoms on record | 33 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO