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Related Experiment Videos

Hirschsprung disease: a genetic study.

K L Garver, J C Law, B Garver

    Clinical Genetics
    |December 1, 1985
    PubMed
    Summary
    This summary is machine-generated.

    Hirschsprung disease is significantly associated with Down syndrome, with 5.9% of patients having both conditions. Recurrence risks for Hirschsprung disease vary based on patient sex and disease extent.

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    Area of Science:

    • Medical Genetics
    • Pediatric Surgery
    • Developmental Biology

    Background:

    • Hirschsprung disease is a congenital disorder characterized by the absence of ganglion cells in the distal bowel.
    • Down syndrome, a genetic disorder caused by trisomy 21, is known to have various associated congenital anomalies.
    • The co-occurrence of Hirschsprung disease and Down syndrome warrants investigation into their potential shared etiology and clinical implications.

    Purpose of the Study:

    • To investigate the association between Hirschsprung disease and Down syndrome.
    • To determine the recurrence risk for families with Hirschsprung disease.
    • To analyze demographic factors, including maternal age and sex ratio, in patients with Hirschsprung disease.

    Main Methods:

    • Retrospective review of 134 histologically diagnosed Hirschsprung disease patients.

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  • Data collection from Children's Hospital in Pittsburgh between 1950 and 1977.
  • Analysis of patient demographics, disease subtypes (short vs. long segment), and co-occurrence with Down syndrome.

    • Main Results:

    • A significant association was found between Hirschsprung disease and Down syndrome, with 5.9% of probands exhibiting both conditions.
    • Mean maternal age for cases with both Hirschsprung disease and Down syndrome (33.5 years) was significantly higher than controls (26.7 years) and non-Down syndrome Hirschsprung patients (26.6 years).
    • The overall sex ratio for Hirschsprung disease was 3.6:1 (male:female), and recurrence risks were found to be dependent on proband sex and the extent of aganglionosis.

    Conclusions:

    • Hirschsprung disease and Down syndrome share a significant association, suggesting potential common genetic or developmental pathways.
    • Elevated maternal age may be a risk factor for the co-occurrence of Hirschsprung disease and Down syndrome.
    • Family recurrence risks for Hirschsprung disease are influenced by specific patient characteristics, necessitating tailored genetic counseling.