Hoyeraal–Hreidarsson syndrome
A severe X-linked telomere disorder with early bone marrow failure.
Hoyeraal–Hreidarsson syndrome is a rare, severe form of dyskeratosis congenita. This X-linked condition, seen mainly in males, causes very short telomeres. Early childhood symptoms include a small cerebellum, weak immune system, bone marrow failure, and restricted growth before birth.
Quick Facts
- Causes
- Mutation in genes related to telomere maintenance
Facts from the source article.
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