Last reviewed: 30 Oct 2023
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
More key diagnostic factors
Other diagnostic factors
- congenital gastrointestinal disorder
- constipation
- feeding difficulty
- behavioral difficulties
Other diagnostic factors
Risk factors
- advanced maternal age
- previous child with Down syndrome
- parental karyotype with a translocation
More risk factors
Diagnostic investigations
1st investigations to order
- chromosomal karyotype
- CBC with differential
- echocardiogram
- hearing test
- thyroid function tests
- vision exam
More 1st investigations to order
Investigations to consider
- abdominal x-ray
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.
Differentials
- Isolated hypotonia
- Zellweger syndrome
- Congenital hypothyroidism
More DifferentialsGuidelines
- 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
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