ring chromosome 12
MeSH: C538298ORPHA: 1439
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 12, sourced from HPO and Orphanet clinical annotations.
Global developmental delayGrowth delayAbnormal facial shapeMicrocephalyAbnormal dermatoglyphicsClinodactylyCryptorchidismUterine leiomyomaLow-set earsWebbed neckEsotropiaPectus excavatumGlanular hypospadiasHypothyroidismHirsutismHemangiomaAcneSyndactylySmall for gestational ageSecundum atrial septal defectDystrophic toenailHigh, narrow palateLumbar hyperlordosisBreast hypoplasiaAbnormal 5th finger morphologyMicrotiaThumb symphalangism
Classification & Codes
MeSH Code
C538298Orphanet Code
ORPHA:1439ring chromosome 12
| MeSH | C538298 |
| Orphanet | ORPHA:1439 |
| Treatments | 0 drug(s) |
| Symptoms on record | 27 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO