MHA is believed to be associated with the MYH9 gene. The pathogenesis of the disorder had been unknown until recently, when autosomal dominant mutations in the gene encoding non-muscle myosin heavy chain IIA (MYH9) were identified. Unique cytoplasmic inclusion bodies are aggregates of nonmuscle myosin heavy chain IIA, and are only present in granulocytes. These<unk><unk>  inclusions are large, basophilic, cytoplasmic inclusions resembling Döhle bodies in the granulocytes. It is not yet known why inclusion bodies are not present in platelets, monocytes, and lymphocytes, or how giant platelets are formed. MYH9 is also found to be responsible for several related disorders with macrothrombocytopenia and leukocyte inclusions, including Sebastian, Fechtner, and Epstein syndromes, which feature deafness, nephritis, and/or cataract. MHA is also a feature of the Alport syndrome (hereditary nephritis with sensorineural hearing loss).
May–Hegglin anomaly
Jordans' anomaly
Majewski's polydactyly syndrome
Alder–Reilly anomaly
Ebstein's anomaly
Trismus pseudocamptodactyly syndrome
First arch syndrome
Choanal atresia