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

C535361

Orphanet Code

ORPHA:1437
ring chromosome 1
MeSHC535361
OrphanetORPHA:1437
Treatments0 drug(s)
Symptoms on record13 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO