ring chromosome 1
MeSH: C535361ORPHA: 1437
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 ring chromosome 1, sourced from HPO and Orphanet clinical annotations.
MicrocephalyRound faceLong philtrumWide nasal bridgeAnteverted naresDownslanted palpebral fissuresTelecanthusPtosisDownturned corners of mouthClinodactyly of the 5th fingerFeeding difficulties in infancyAbnormal hair patternCognitive impairment
Classification & Codes
MeSH Code
C535361Orphanet Code
ORPHA:1437ring chromosome 1
| MeSH | C535361 |
| Orphanet | ORPHA:1437 |
| Treatments | 0 drug(s) |
| Symptoms on record | 13 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO