Cooper-Jabs syndrome
MeSH: C565923ORPHA: 1488
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 Cooper-Jabs syndrome, sourced from HPO and Orphanet clinical annotations.
BrachycephalyMalar flatteningAbnormality of the middle earConductive hearing impairmentAtresia of the external auditory canalAnteverted naresIntellectual disabilityAnteriorly placed anusVentricular septal defectFrontal bossingProximal placement of thumbStrabismusAbnormal rib morphologyCongenital diaphragmatic herniaMissing ribsHypotoniaUmbilical herniaRespiratory insufficiencyScoliosisAbnormal hip bone morphologyShort statureReduced bone mineral densityAbnormal dermatoglyphicsCamptodactyly of fingerJoint hypermobilityPosteriorly rotated ears
Classification & Codes
MeSH Code
C565923Orphanet Code
ORPHA:1488Cooper-Jabs syndrome
| MeSH | C565923 |
| Orphanet | ORPHA:1488 |
| Treatments | 0 drug(s) |
| Symptoms on record | 26 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO