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Familial Hirschsprung’s Disease

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Hirschsprung's Disease and Allied Disorders

Abstract

Hirschsprung’s disease (HSCR) is known to occur in families. In affected families, the reported overall incidence of HSCR is 7.6%, increasing to 15–21% in total colonic aganglionosis and 50% in the rare total intestinal aganglionosis. Familial occurrence, male predominance, high sibling recurrence risk, association with chromosomal anomalies, and the existence of several naturally occurring animal models with colonic aganglionosis strongly suggest an underlying genetic etiology. The mode of inheritance varies from dominant with reduced penetrance in nonsyndromic familial HSCR patients to recessive in families with syndromic HSCR. Genetic counseling should be offered to HSCR families, particularly in those with long-segment HSCR and total colonic aganglionosis.

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Authors and Affiliations

  1. University College Dublin, Dublin, Ireland

    Prem Puri

  2. National Children’s Research Centre, Our Lady’s Children’s Hospital Crumlin, Dublin, Ireland

    Prem Puri & Hiroki Nakamura

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  1. Prem Puri
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  2. Hiroki Nakamura
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Correspondence to Prem Puri .

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Editors and Affiliations

  1. National Children’s Research Centre, Our Lady’s Childrens Hospital, University College Dublin, Dublin, Ireland

    Prem Puri

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Puri, P., Nakamura, H. (2019). Familial Hirschsprung’s Disease. In: Puri, P. (eds) Hirschsprung's Disease and Allied Disorders. Springer, Cham. https://doi.org/10.1007/978-3-030-15647-3_6

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  • DOI: https://doi.org/10.1007/978-3-030-15647-3_6

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  • Publisher Name: Springer, Cham

  • Print ISBN: 978-3-030-15646-6

  • Online ISBN: 978-3-030-15647-3

  • eBook Packages: MedicineMedicine (R0)

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