Fechtner syndrome

Definition:

Fechtner syndrome is a rare autosomal dominant progressive nephropathy associated with macrothrombocytopenia. Sensorineural hearing loss can also occur. Fechtner syndrome shows the additional features of cataracts and blue leukocyte inclusion bodies (Doehle-like bodies). It is linked to mutations in MYH9, the nonmuscle myosin heavy chain.

References:

[1]. Kyoung Hee Han, et al. Renal manifestations of patients with MYH9-related disorders. Pediatr Nephrol. 2011 Apr;26(4):549-55. [Content Brief]

[2]. M Seri, et al. Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes. The May-Heggllin/Fechtner Syndrome Consortium. Nat Genet. 2000 Sep;26(1):103-5. [Content Brief]

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