Jacobsen syndrome

Also known as: 11q deletion syndrome

Terminal 11q deletion with congenital heart disease and thrombocytopenia.

Medical specialty: Cardiology
Subspecialty: Cardiology / Genetic cardiology
Sex & age distribution: Male: affected; Female: affected, more common; Children: yes, birth
Gene(s) involved: ETS1, FLI1

Etiology & mechanism

Deletion of 11q23-qter including ETS1 and FLI1.

Gene(s) involved (2)

ETS1FLI1

Symptoms & signs (6)

bleedingcongenital heart diseasefacial dysmorphismgrowth retardationpsychomotor delaythrombocytopenia

SyndromeScope — educational reference. Content is model-generated and not clinically verified; always confirm against OMIM, Orphanet and GeneReviews before clinical use.