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Radial aplasia-thrombocytopenia syndrome
Thrombocytopenia absent radius (TAR) syndrome is characterized by bilateral absence of the radii with the presence of both thumbs, and thrombocytopenia that is generally transient. Thrombocytopenia may be congenital or may develop within the first few weeks to months of life; in general, thrombocytopenic episodes decrease with age. Cow's milk allergy is common and can be associated with exacerbation of thrombocytopenia. Other anomalies of the skeleton (upper and lower limbs, ribs, and vertebrae), heart, and genitourinary system (renal anomalies and agenesis of uterus, cervix, and upper part of the vagina) can occur. [from GeneReviews]
Brachyphalangy, polydactyly, and tibial aplasia/hypoplasia
Aplasia/hypoplasia of the humerus
Absence (due to failure to form) or underdevelopment of the humerus. [from HPO]
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