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MYH9 related thrombocytopenia

Other Names for this Disease
  • Epstein syndrome
  • Fechtner syndrome
  • May-Hegglin anomaly
  • MYH9 related disorders
  • Sebastian platelet syndrome
More Names
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MYH9-related thrombocytopenia (MYH9RD) is a genetic condition caused by mutations in the MYH9 gene and is characterized by large platelets and thrombocytopenia (low number of platelets) which increases the risk for mild to serious bleeding in the body or in the skin. Young-adult onset high frequency sensorineural hearing loss, presenile (early) cataract, and kidney disease also variably occurs in people with this condition.[1] This condition is inherited in an autosomal dominant fashion.  

The following conditions, once thought to be separate, are now known to be part of MYH9RD.

Epstein syndrome
Fechtner syndrome
May-Hegglin anomaly
Sebastian syndrome

Last updated: 1/22/2014


  1. Savoia A, Balduini CL. MYH9-Related Disorders. GeneReviews. 2011; Accessed 4/11/2012.
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Basic Information

  • Genetics Home Reference (GHR) contains information on MYH9 related thrombocytopenia. This website is maintained by the National Library of Medicine.
  • Orphanet provides information on Sebastian syndromeFechtner syndrome, and Epstein syndrome. Orphanet is a database dedicated to information on rare diseases and orphan drugs.  Access to this database is free of charge.  Click on the MYH9-related disorders listed above to view the information pages.

In Depth Information

  • Medscape Reference has information on May-Hegglin anomaly which includes information on other MYH9-related thrombocytopenias. You may need to register to view this medical reference, but registration is free.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss MYH9 related thrombocytopenia. Click on the link to view a sample search on this topic.