Hoyeraal–Hreidarsson syndrome

Also known as: Severe dyskeratosis congenita variant

Severe telomere biology disorder with immunodeficiency, cerebellar hypoplasia and microcephaly.

Medical 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

Etiology & mechanism

Short telomeres from DKC1, TINF2, RTEL1 and other variants.

Gene(s) involved (7)

ACDDCLRE1BDKC1PARNRTEL1TERTTINF2

Symptoms & signs (7)

bone marrow failurecerebellar hypoplasiadevelopmental delayenteropathyimmunodeficiencyintrauterine growth restrictionmicrocephaly

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