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Hoyeraal-Hreidarsson syndrome
rareHoyeraal-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.
- Identifiers
- MONDO:0018045 Orphanet:3322
- Part of
- Central nervous system malformationDyskeratosis congenita, X-linkedHereditary neurological disease
- Also known as
- Growth retardation prenatal with progressive pancytopenia and cerebellar hypoplasia · Hoyeraal Hreidarsson syndrome · progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome
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