Thrombocytopenia with absent radii syndrome

Also known as: TAR syndrome

Congenital hypomegakaryocytic thrombocytopenia with bilateral absent radii.

Medical specialty: Hematology
Subspecialty: Hematology / Bone marrow failure
Sex & age distribution: Male: affected; Female: affected equally; Children: yes, birth
Gene(s) involved: RBM8A

Etiology & mechanism

Compound inheritance of RBM8A null allele and a hypomorphic variant.

Gene(s) involved (1)

RBM8A

Symptoms & signs (7)

bilateral radial aplasiableedingcow milk allergyheart defectspetechiaethrombocytopeniathumbs present

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