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Key Points

  • With improvements in medical care, children with genetic diseases now live longer.

  • Transition of care of pediatric patients with chronic diseases to adult providers presents challenges, especially in the care of pediatric genetic diseases.

  • Adult patients with monogenic diseases diagnosed in childhood require an interdisciplinary approach to medical care.

  • Medical management of other adult-onset conditions not related to the primary diagnosis must be addressed.

  • The astute physician must sometimes differentiate between medical issues related to the primary genetic diagnosis and other nonrelated pathologic conditions.


Although the majority of conditions seen in adult medicine are multifactorial in nature, many monogenic disorders are becoming more frequent in adults due to improvements in health care, leading to longer survival of affected children.

There are two general scenarios where an adult physician may see a patient with a childhood genetic disorder:

  1. When the patient is diagnosed in childhood and requires continuing care into adulthood (eg, Down syndrome).

  2. When a new patient presents whose syndrome was not diagnosed in childhood.

Table 178-1 is a survey of genetic conditions that present in childhood and may continue into adulthood. This table is in no way intended to be exhaustive, but rather, gives an overview of the various monogenic and chromosomal disorders that may present to the adult physician. Further details of these conditions can be found in Online Mendelian Inheritance in Man (OMIM;

Table 178-1Genetic Syndromes of Childhood in Adults

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