Paris–Trousseau syndrome

Also known as: Jacobsen syndrome platelet disorder

Congenital macrothrombocytopenia with giant alpha-granules.

Medical specialty: Hematology
Subspecialty: Hematology / Platelet disorders
Sex & age distribution: Male: affected; Female: affected; Children: yes
Gene(s) involved: FLI1

Etiology & mechanism

11q deletion including FLI1.

Gene(s) involved (1)

FLI1

Symptoms & signs (4)

bleedingdevelopmental delaygiant platelet granulesthrombocytopenia

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