Hoyeraal-Hreidarsson syndrome
Hoyeraal-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.
Also known as progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome — per MONDO