Catalog

Hoyeraal-Hreidarsson syndrome

No MMS code

Link to WHO Definition

Hoyeraal-Hreidarsson syndrome – http://id.who.int/icd/entity/340127408

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