Orthopedics · Orthopedics / Skeletal dysplasia
Thrombocytopenia-absent radius syndrome
also: TAR syndrome
Absent radii with thrombocytopenia.
- Specialty
- Orthopedics
- Subspecialty
- Orthopedics / Skeletal dysplasia
- Sex & age distribution
- Male: affected; Female: affected, equal; Children: yes, congenital
- Gene(s) involved
- RBM8A
- Alternative names & eponyms
- TAR syndrome
Etiology & mechanism
RBM8A hypomorphic variants.
Gene(s) involved (1)
Symptoms & signs (5)
In plain terms, someone with Thrombocytopenia-absent radius syndrome may experience the following — click any to explore related syndromes:
Same gene(s)
Other syndromes that involve one of this syndrome's genes.
Overlapping symptoms
Other syndromes that share symptoms with this one.
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Shares symptoms with
2 shared
Thrombocytopenia with absent radii syndrome
heart defects, thrombocytopenia
1 shared
Antiphospholipid syndrome
thrombocytopenia
1 shared
Atypical hemolytic uremic syndrome
thrombocytopenia
1 shared
Bernard–Soulier syndrome
thrombocytopenia
1 shared
Cat eye syndrome
heart defects
1 shared
CHARGE syndrome
heart defects
1 shared
Congenital rubella syndrome
heart defects
1 shared
Cornelia de Lange syndrome
heart defects
1 shared
Dengue shock syndrome
thrombocytopenia
1 shared
Edwards syndrome
heart defects
Shares genes with
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