Trisomy 21

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Trisomy 21, also known as Down syndrome, is a common genetic abnormality.

Characteristics

Mnemonic CHILD HAS PROBLEM:[1]

  1. Congenital heart disease / Cataracts.
  2. Hypothyroidism / Hypotonia.
  3. Incurved 5th digit (clinodactyly)[2] / Increased gap between 1st and 2nd toe.
  4. Leukemia risk x2 / Lung problem.
  5. Duodenal atresia / Delayed development.
  6. Hirschsprung disease / Hearing loss.
  7. Alzheimer disease / Alantoaxial instability.
  8. Short neck / Squint.
  9. Palmar crease / Protruding tongue.
  10. Round face / Rolling eye (nystagmus).
  11. Occiput flat / Oblique eye fissure.
  12. Brushfield spots / Brachycephaly.
  13. Low nasal bridge / Language problems.
  14. Epicanthic fold / Ears folded.
  15. Mental retardation / Myoclonus.

Notes:

  • Brushfield spots = white/grey spots in the iris (the "colour part" of the eye).

See also

References

External links