Down syndrome

Alternative names:

Mongolism; trisomy 21

Symptoms:

• decreased muscle tone at birth
• sutures - separated
• asymmetrical or odd-shaped skull
  • round head with flat area at the back of the head (occiput)
  • small skull (microcephaly)

• slanting eyes, unusual for ethnic group (often called Mongolian slant or upward slant)
• small mouth with protruding tongue (see tongue problems)
• broad short hands
• single crease on the palm (simian crease)
• retarded growth and development
• delayed mental and social skills (mental retardation)
• iris lesion (an abnormality of the colored part of the eye, called Brushfield spots)

Signs and tests:

A heart murmur may be revealed by listening to the chest with a stethoscope (auscultation). Characteristic abnormalities are revealed by a physical examination.

Inability at birth to pass a tube from the nose into the stomach may indicate obstruction of the esophagus (esophageal atresia) while early and massive vomiting may indicate obstruction of the duodenum or lower segments of the gastrointestinal tract.

Tests include:

• physical exam (diagnosis often suspected and made by examination)
• chromosome studies (demonstrates three 21-chromosomes)
• X-ray, chest (to determine presence of cardiac abnormalities)
• echocardiogram (to determine nature of cardiac abnormality)
• ECG
• X-ray, gastrointestinal (to determine obstruction if symptoms are suggestive)