/Hoyeraal-Hreidarsson syndrome

Hoyeraal-Hreidarsson syndrome

Rare Disease

MONDO:0018045

Also Known As

progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndromeGrowth retardation prenatal with progressive pancytopenia and cerebellar hypoplasiaHoyeraal Hreidarsson syndrome

Definition

Hoyeraal-Hreidarsson syndrome (HHS) is a very rare X-linked recessive disorder considered to be a severe variant of dyskeratosis congenita characterized by intrauterine growth retardation, microcephaly, cerebellar hypoplasia, progressive combined immune deficiency and aplastic anemia.