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Definition

A clinically severe variant of dyskeratosis congenita that is characterized by multisystem involvement, early onset in utero, and often results in death in childhood. Affected individuals show intrauterine growth retardation, microcephaly, cerebellar hypoplasia, delayed development, and bone marrow failure resulting in immunodeficiency.

Acronym

HHS

Synonyms

Cerebellar hypoplasia with pancytopenia
Prenatal growth retardation with progressive pancytopenia and cerebellar hypoplasia

Keywords

Dyskeratosis congenita

 
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