Hoyeraal-Hreidarsson syndrome
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
Hoyeraal-Hreidarsson syndrome. DKC1, TERT, TINF2, RTEL1, ACD, PARN. Fully referenced neurology checklist.
Frequent germline mutations
- DKC1
- TERT
- TINF2
- RTEL1
- ACD
- PARN
Features of dyskeratosis congenita (DC)
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Neurological features
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Systemic features
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Radiological features
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Treatment
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References
- Glousker G, Touzot F, Revy P, Tzfati Y, Savage SA. Unraveling the pathogenesis of Hoyeraal-Hreidarsson syndrome, a complex telomere biology disorder. Br J Haematol 2015; 170:457-471.
- Burris AM, Ballew BJ, Kentosh JB, et al. Hoyeraal-Hreidarsson syndrome due to PARN mutations: fourteen years of follow-up. Pediatr Neurol 2016; 56:62-68.e1.
