Down's syndrome

Last reviewed: 18 Apr 2022
Last updated: 08 Mar 2022

Summary

Definition

History and exam

Key diagnostic factors

  • presence of risk factors
  • common physical examination features
  • hypotonia
  • congenital heart disease
  • gross motor delay
  • language delay
  • cognitive disability
  • hearing loss
  • autism spectrum disorder
More key diagnostic factors

Other diagnostic factors

  • congenital gastrointestinal disorder
  • constipation
  • feeding difficulty
  • behavioural difficulties
Other diagnostic factors

Risk factors

  • advanced maternal age
  • previous child with Down's syndrome
  • parental karyotype with a translocation
More risk factors

Diagnostic investigations

1st investigations to order

  • chromosomal karyotype
More 1st investigations to order

Investigations to consider

  • echocardiogram
  • abdominal x-ray
  • hearing test
  • thyroid function tests
  • haemoglobin
  • vision examination
  • dental examination
  • developmental evaluation
  • psycho-educational evaluation
  • total IgA and anti-tissue transglutaminase antibodies
  • polysomnography
  • cervical spine x-rays
More investigations to consider

Treatment algorithm

ACUTE

newborns

ONGOING

children

Contributors

Authors

Kishore Vellody, MD

Associate Professor of Pediatrics

Medical Director

Down Syndrome Center of Western Pennsylvania

Children’s Hospital of Pittsburgh

Pittsburgh

PA

Disclosures

KV declares that he has no competing interests.

Acknowledgements

Dr Kishore Vellody would like to gratefully acknowledge Dr Jeannie Visootsak, the previous contributor to this topic.

Disclosures

JV declared that she had no competing interests.

Peer reviewers

Nirupama S. Madduri, MD

Assistant Professor

Developmental-Behavioral Pediatrics

Vanderbilt University School of Medicine

Nashville

TN

Disclosures

Not disclosed.

W. Carl Cooley, MD

Medical Director

Crotched Mountain Foundation

Medical Director

Center for Medical Home Improvement

Adjunct Professor of Pediatrics

Dartmouth Medical School

Greenfield

NH

Disclosures

WCC declares that he has no competing interests.

  • Down's syndrome images
  • Differentials

    • Isolated hypotonia
    • Zellweger's syndrome
    • Congenital hypothyroidism
    More Differentials
  • Guidelines

    • Guidelines on thyroid disorder in children and young people with Down syndrome: surveillance and when to initiate treatment
    • Medical care of adults with Down syndrome: a clinical guideline
    More Guidelines
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