Thrombocytopenia-absent radius syndrome

Also known as: TAR syndrome

Absent radii with thrombocytopenia.

Medical specialty: Orthopedics
Subspecialty: Orthopedics / Skeletal dysplasia
Sex & age distribution: Male: affected; Female: affected, equal; Children: yes, congenital
Gene(s) involved: RBM8A

Etiology & mechanism

RBM8A hypomorphic variants.

Gene(s) involved (1)

RBM8A

Symptoms & signs (5)

absent radiicow's milk intoleranceheart defectspresent thumbsthrombocytopenia

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