Hoyeraal-Hreidarsson syndrome

Definition:

Hoyeraal-Hreidarsson syndrome is an X-linked recessive disorder considered to be a severe variant of dyskeratosis congenita. It is a multisystem disorder characterized by intrauterine growth retardation, microcephaly, cerebellar hypoplasia, bone marrow failure associated with immunodeficiency. A missense mutation in the DKC1 gene and premature short telomeres were found in the disease.

References:

[1]. Elvis Terci Valera, et al. Genomic instability in Hoyeraal-Hreidarsson syndrome. Pediatr Blood Cancer. 2010 May;54(5):779-80. [Content Brief]

[2]. Yves Sznajer, et al. Further delineation of the congenital form of X-linked dyskeratosis congenita (Hoyeraal-Hreidarsson syndrome). Eur J Pediatr. 2003 Dec;162(12):863-7. [Content Brief]

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