Trisomy 21

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

Characteristics

Mnemonic CHILD HAS PROBLEM:

• Congenital heart disease / Cataracts.
• Hypotonia / Hypothyroidism.
• Incurved 5th finger / Increased gap between 1st and 2nd toe.
• Leukemia risk x2 / Lung problem.
• Duodenal atresia / Delayed development.
• Hirschsprung disease / Hearing loss.
• Alzheimer disease / Alantoaxial instability.
• Squint / Short neck.
• Protruding tongue/ Palmar crease.
• Round face / Rolling eye (nystagmus).
• Occiput flat / Oblique eye fissure.
• Brushfield spot / Brachycephaly.
• Low nasal bridge / Language problems.
• Epicanthic fold / Ears folded.
• Mental retardation / Myoclonus.

See also

• Trisomy 13 (Patau syndrome).
• Trisomy 18 (Edwards syndrome).
• Chromosomal anomalies.
• Stillbirth.