When viewing this topic in a different language, you may notice some differences in the way the content is structured, but it still reflects the latest evidence-based guidance.

Down syndrome

Last reviewed: 30 Sep 2024
Last updated: 01 Nov 2022

Summary

Definition

History and exam

Key diagnostic factors

  • common physical exam features
  • hypotonia
  • congenital heart disease
  • gross motor delay
  • language delay
  • cognitive disability
  • hearing loss
  • autism spectrum disorder
Full details

Other diagnostic factors

  • congenital gastrointestinal disorder
  • constipation
  • feeding difficulty
  • behavioral difficulties
Full details

Risk factors

  • advanced maternal age
  • previous child with Down syndrome
  • parental karyotype with a translocation
Full details

Diagnostic tests

1st tests to order

  • chromosomal karyotype
  • CBC with differential
  • echocardiogram
  • hearing test
  • thyroid function tests
  • vision exam
Full details

Tests to consider

  • abdominal x-ray
Full details

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 syndrome images
  • Differentials

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

    • Health supervision for children and adolescents with Down syndrome
    • Guidelines on thyroid disorder in children and young people with Down syndrome: surveillance and when to initiate treatment
    More Guidelines
  • padlock-lockedLog in or subscribe to access all of BMJ Best Practice

Use of this content is subject to our disclaimer