Fechtner syndrome
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Fechtner syndrome, like the May-Hegglin anomaly (155100) and the Sebastian syndrome (605249) (2 giant-platelet disorders) are caused by allelic mutations in the gene encoding nonmuscle myosin heavy chain-9 (MYH9; 160775) on chromosome 22q.
The name of the syndrome is derived from teh surname of a family in which 8 members of 4 generations developed nephritis, deafness, congenital cataracts, macrothrombocytopenia, and leukocyte inclusions in various combinations. The family differed from others reported, such as families with Epstein syndrome, in that their hematologic abnormalities included not only macrothrombocytopenia but also small, pale blue cytoplasmic inclusions in the neutrophils and eosinophils. Deafness was high-tone sensorineural. Renal disease ranged from microscopic hematuria to end-stage renal failure necessitating dialysis and kidney transplantation. All affected adults had cataracts.
A second family was reported on by Gershoni-Baruch et al. in 1988 in which 16 members were affected.
Diagnosis
Diagnosis
The blood smear can show giant platelets which are the size of granulocytes. By light microscopy, there is the appearance of the inclusions that resemble that of toxic Dohle bodies and inclusions of May-Hegglin anomaly, but their ultrastructural appearance is unique. In some patients, there is impaired liver function and hypercholesterolemia.
Differentiation from Sebastian Syndrome
Differentiation from Sebastian Syndrome
Sebastian platelet syndrome as an autosomal dominant disorder characterized by the same hematologic changes as those in the Fechtner syndrome but without the manifestations of Alport syndrome.
Because of the phenotypic similarities between May-Hegglin anomaly and Fechtner syndrome and the demonstration that the 2 disease loci are mapped to overlapping regions on chromosome 22, the May-Hegglin/Fechtner Syndrome Consortium (2000) suggested that they, as well as Sebastian syndrome, might be allelic. MYH9 was a strong candidate gene because it is located within that region of chromosome 22, is expressed in platelets, and is upregulated during granulocyte differentiation. The May-Hegglin/Fechtner Syndrome Consortium (2000) identified 6 MYH9 mutations (1 nonsense and 5 missense) in 7 unrelated probands from families with one or another of these 3 syndromes.
References
References
1. Gershoni-Baruch, R.; Baruch, Y.; Viener, A.; Lichtig, C. :Fechtner syndrome: clinical and genetic aspects. Am. J. Med. Genet. 31: 357-367, 1988. PubMed ID : 3232700
2. Greinacher, A.; Mueller-Eckhardt, C. :Hereditary types of thrombocytopenia with giant platelets and inclusion bodies in the leukocytes. Blut 60: 53-60, 1990. PubMed ID : 2154271
3. Heynen, M. J.; Blockmans, D.; Verwilghen, R. L.; Vermylen, J. :Congenital macrothrombocytopenia, leucocyte inclusions, deafness and proteinuria: functional and electron microscopic observations on platelets and megakaryocytes. Brit. J. Haemat. 70: 441-448, 1988. PubMed ID : 2851314
4. May-Hegglin/Fechtner Syndrome Consortium :Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes. Nature Genet. 26: 103-105, 2000. PubMed ID : 10973259
5. Peterson, L. C.; Rao, K. V.; Crosson, J. T.; White, J. G. :Fechtner syndrome: a variant of Alport’s syndrome with leukocyte inclusions and macrothrombocytopenia. Blood 65: 397-406, 1985.PubMed ID : 2981587
6. Rocca, B.; Laghi, F.; Zini, G.; Maggiano, N.; Landolfi, R. :Fechtner syndrome: report of a third family and literature review. Brit. J. Haemat. 85: 423-426, 1993. PubMed ID : 8280620
7. Toren, A.; Amariglio, N.; Rozenfeld-Granot, G.; Simon, A. J.; Brok-Simoni, F.; Pras, E.; Rechavi, G. :Genetic linkage of autosomal-dominant Alport syndrome with leukocyte inclusions and macrothrombocytopenia (Fechtner syndrome) to chromosome 22q11-13. Am. J. Hum. Genet. 65: 1711-1717, 1999.PubMed ID : 10577925
8. Toren, A.; Rozenfeld-Granot, G.; Rocca, B.; Epstein, C. J.; Amariglio, N.; Laghi, F.; Landolfi, R.; Brok-Simoni, F.; Carlsson, L. E.; Rechavi, G.; Greinacher, A. :Autosomal-dominant giant platelet syndromes: a hint of the same genetic defect as in Fechtner syndrome owing to a similar genetic linkage to chromosome 22q11-13. Blood 96: 3447-3451, 2000. PubMed ID : 11071640
Looking for the patient version?
© 2026 MyEClinic – IFTM Institut für Telematik in der Medizin GmbH