Hematology · Hematology / Bone marrow failure
Hoyeraal–Hreidarsson syndrome
also: Severe dyskeratosis congenita variant
Severe telomere biology disorder with immunodeficiency, cerebellar hypoplasia and microcephaly.
- Specialty
- Hematology
- Subspecialty
- Hematology / Bone marrow failure
- Sex & age distribution
- Male: affected, X-linked; Female: affected in autosomal forms; Children: yes, infancy
- Gene(s) involved
- ACD, DCLRE1B, DKC1, PARN, RTEL1, TERT, TINF2
- Alternative names & eponyms
- Severe dyskeratosis congenita variant
Etiology & mechanism
Short telomeres from DKC1, TINF2, RTEL1 and other variants.
Gene(s) involved (7)
Symptoms & signs (7)
In plain terms, someone with Hoyeraal–Hreidarsson syndrome may experience the following — click any to explore related syndromes:
Same gene(s)
Other syndromes that involve one of this syndrome's genes.
Overlapping symptoms
Other syndromes that share symptoms with this one.
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Shares symptoms with
2 shared
Cockayne syndrome
developmental delay, microcephaly
2 shared
Fetal hydantoin syndrome
developmental delay, microcephaly
2 shared
Folate malabsorption syndrome
developmental delay, immunodeficiency
2 shared
Galloway–Mowat syndrome
developmental delay, microcephaly
2 shared
Glucose transporter type 1 deficiency syndrome
developmental delay, microcephaly
2 shared
Nijmegen breakage syndrome
immunodeficiency, microcephaly
2 shared
Revesz syndrome
bone marrow failure, cerebellar hypoplasia
2 shared
Ritscher–Schinzel syndrome
cerebellar hypoplasia, developmental delay
2 shared
Trichohepatoenteric syndrome
immunodeficiency, intrauterine growth restriction
1 shared
Aicardi syndrome
developmental delay
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