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General Medicine

Down Syndrome (Trisomy 21), Pediatric

Esther K. Chung, MD, MPH Reviewed 10/2018
 


BASICS

DESCRIPTION

Syndrome first described by John Langdon Down in 1866 consisting of multiple abnormalities, including hypotonia, flat facies, upslanting palpebral fissures, and small ears; also call...

DIAGNOSIS

HISTORY

  • Check for previous history of infant with Down syndrome in the family.

  • Growth and developmental status

  • Feeding problems

  • Snoring, signs of sleep apnea (e.g., restless sleep)

  • Stool habits

  • He...

ONGOING CARE

FOLLOW-UP RECOMMENDATIONS

  • Genetic counseling and evaluation is recommended.

  • Referral to organizations (e.g., Down Syndrome International), parent-to-parent support groups, and other communi...

ADDITIONAL READING

  • Bruwier A, Chantrain CF. Hematological disorders and leukemia in children with Down syndrome. Eur J Pediatr.  2012;171(9):1301–1307. [View Abstract on OvidInsights]

  • Bull MJ; and...

CODES

ICD9

758 Down’s syndrome 

ICD10

  • Q90.9 Down syndrome, unspecified

  • Q90.2 Trisomy 21, translocation

  • Q90.1 Trisomy 21, mosaicism (mitotic nondisjunction)

  • Q90.0 Trisomy 21, nonmosaicism (meiotic nondisjunc...

FAQ

  • Q: Why was Down syndrome referred to as mongolism in the past?

  • A: There was a mistaken notion about a racial cause for this syndrome because of the facial appearance, which was thought to be simila...

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Related Images
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Trisomy 21 in the karyotype of a child with Down syndrome. All other chromosomes are normal.
Trisomy 21 in the karyotype of a child with Down syndrome. All other chromosomes are normal.
A. Translocation of the long arms of chromosomes 14 and 21 at the centromere. Loss of the short arms is not clinically significant, and these individuals are clinically normal, although they are at risk for producing offspring with unbalanced translocations. B. Karyotype of translocation of chromosome 21 into 14, resulting in Down syndrome.
A. Translocation of the long arms of chromosomes 14 and 21 at the centromere. Loss of the short arms is not clinically significant, and the...
FIGURE 30.26. Fluorescence in situ hybridization in A employed a chromosome 5 painting probe on a cell from a patient with severe mental retardation and self-abusive behavior. On G-banded analysis, an abnormal dark staining band was seen in the p arm of chromosome 1. Using a 24-chromosome painting probe device (Cytocell, Ltd., Oxfordshire, UK), the abnormal segment was identified to be derived from chromosome 5 and confirmed using another chromosome 5 painting probe (Vysis, Inc, Downer's Gr...
FIGURE 30.26. Fluorescence in situ hybridization in A employed a chromosome 5 painting probe on a cell from a patient with severe mental re...
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