MeSH Browser

MeSH Supplementary: Hoyeraal Hreidarsson syndrome
Unique ID: C536068
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/C536068
Entry Term(s): Cerebellar hypoplasia with pancytopenia; Hoyeraal-Hreidarsson Syndrome
Heading Mapped to: *Fetal Growth Retardation; *Intellectual Disability; *Microcephaly; *Dyskeratosis Congenita
Frequency: 43
Note: A severe variant of DKC that is characterized by multisystem involvement and early onset in utero. Patients with HHS show intrauterine growth retardation; MICROCEPHALY; DEVELOPMENTAL DISABILITIES, and bone marrow failure resulting in immunodeficiency, cerebellar hypoplasia, and sometimes enteropathy. Death often occurs in childhood. Caused by mutations in the DKC1 gene. OMIM: 305000
Date of Entry: 2010/08/25
Revision Date: 2015/08/18

Hoyeraal Hreidarsson syndrome MeSH Supplementary Concept Data 2024