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10 Possible Causes for Cerebellar Hypoplasia - HHS Variant

  • Hoyeraal-Hreidarsson Syndrome

    HHS is a severe variant of dyskeratosis congenita( ref ).”( ref ).[anti-agingfirewalls.com] […] a clinically severe variant of DC, also includes cerebellar hypoplasia, immunodeficiency, and intrauterine growth retardation.[ncbi.nlm.nih.gov] HHS is a severe variant of Dyskeratosis Congenita (DC) that displays clinical features overlapping DC, with T, B and NK immunodeficiency.[waojournal.biomedcentral.com]

  • Familial Pterygium of the Conjunctiva

    […] characterized by IUGR, developmental delay, microcephaly, cerebellar hypoplasia, immunodeficiency, and bone marrow failure) • HH Syndrome Variant: Recessive Founder Mutation[de.slideshare.net] DC Variants Early childhood variants of DC include:Early childhood variants of DC include: • Hoyeraal-Hreidarsson syndrome (characterized byHoyeraal Hreidarsson syndrome ([de.slideshare.net]

  • Dyskeratosis Congenita

    Hoyeraal Hreidarsson syndrome (HH) also includes cerebellar hypoplasia, severe immunodeficiency, enteropathy, and intrauterine growth retardation.[ncbi.nlm.nih.gov] Ataxia may result from cerebellar hypoplasia in the HH variant of DC [ 9 ; 11 ; 13 - 15 ].[ncbi.nlm.nih.gov] In addition to features of DC, patients with HH have cerebellar hypoplasia, severe immunodeficiency, enteropathy, and intrauterine growth retardation.[ncbi.nlm.nih.gov]

  • Myelocerebellar Disorder

    […] severe variant of DC, with the additional manifestations of cerebellar hypoplasia, microcephaly, and psychomotor retardation.4, 5, 6 Most patients with DC have very short[hiv-proteases.com] […] least 13 disorders frequently from the triad of reticulated pores and skin hyperpigmentation, nail dystrophy, and oral leukoplakia.4, 5, 6 Hoyeraal-Hreidarsson syndrome (HHS[hiv-proteases.com]

  • Congenital Aplastic Anemia

    Hoyeraal Hreidarsson syndrome (HH) is a clinically severe variant of DC in which patients also have cerebellar hypoplasia and may present with severe immunodeficiency and[science.gov] (see this term) characterized by intrauterine growth retardation, microcephaly , cerebellar hypoplasia, progressive combined immune deficiency and aplastic anemia .[rarediseases.info.nih.gov] (Also known as/Synonyms) Cerebellar Hypoplasia with Pancytopenia Growth Retardation Prenatal with Progressive Pancytopenia and Cerebellar Hypoplasia HHS (Hoyeraal-Hreidarsson[dovemed.com]

  • Autosomal Dominant Aplasia and Myelodysplasia

    The severedevelopmental problems and cerebellar hypoplasia in HHfamilies emphasize an important role of dyskerin in braindevelopment.The demonstration that HH is a severe[vdocuments.mx] Thefinding of these two novel missense mutations in twofamilies with all the features of HH demonstrates that HH isa severe variant of X-linked DC (Knight et al, 1999a).[vdocuments.mx] It alsoshows that mutations in DKC1 can give rise to a much moreheterogeneous clinical phenotype than previously thought,including cerebellar hypoplasia and severe immunodefi-ciency[vdocuments.mx]

  • X-Linked Severe Combined Immunodeficiency

    - SCID and cerebellar hypoplasia (Figure 8 ), is the severe infantile variant of dyskeratosis congenita [ 17, 106 ].[doi.org] Hoyeraal-Hreidarsson Syndrome (HHS) (OMIM 300240) Hoyeraal-Hreidarsson syndrome (HHS), characterized by telomerase defect and by the pathognomonic association of T B - NK[doi.org]

  • Revesz Syndrome

    (Also known as/Synonyms) Cerebellar Hypoplasia with Pancytopenia Growth Retardation Prenatal with Progressive Pancytopenia and Cerebellar Hypoplasia HHS (Hoyeraal-Hreidarsson[dovemed.com] (Definition/Background Information) Hoyeraal-Hreidarsson Syndrome (HHS) is a very rare X-linked recessive disorder considered to be a severe variant of dyskeratosis congenita[dovemed.com] […] characterized by intrauterine growth retardation, microcephaly, cerebellar hypoplasia, progressive combined immune deficiency and aplastic anemia The disease generally presents[dovemed.com]

  • Autosomal Recessive Dyskeratosis Congenita Type 5

    An MRI of her brain showed cerebellar hypoplasia. Based on her clinical history and very short telomeres, she was diagnosed with the HH variant of DC.[journals.plos.org] Hoyeraal Hreidarsson syndrome (HH) is a clinically severe variant of DC in which patients also have cerebellar hypoplasia and may present with severe immunodeficiency and[journals.plos.org]

  • Common Variable Immunodeficiency Type 11

    , bone marrow failure, and cerebellar hypoplasia.[mendelian.co] Hoyeraal-Hreidarsson syndrome (HHS) is a severe clinical variant of DKC that is characterized by intrauterine growth failure, microcephaly, developmental delay, immunodeficiency[mendelian.co] Patients with mutations in the RTEL1 gene tend to present with HHS (summary by Walne et al., 2013 ).For a discussion of genetic heterogeneity of dyskeratosis congenita, see[mendelian.co]

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