DIAGNOSIS OF DOWN SYNDROME

Presenting features

The child with Down's syndrome is characterized by striking physical changes, low stature with delayed physical and mental milestones. The defects are widespread through the body. The condition is usually present from birth; physical growth is slow, and has stopped by the time the child is 15. 

Defective growth of the skull, leading especially to abnormalities of the base and the orbit, is responsible for the peculiarities of cranial shape. The appearance of these usually happy persons, mentally challenged to a variable degree is rather suggestive of a Mongol race (We NEVER USE the term Mongolism now) or of a fetus. The skull is small and round, and the junction of occiput (lower back part of skull) and back of neck flat; an epicanthic fold across each inner canthus, narrow tilted eye-slits and lids without lashes, red cheeks, fissured and often protruding tongue, stubby depressed nose with nostrils looking forward, irregular late-appearing teeth, coarse hair on the scalp, small facial bones and occasional neurological anomalies, such as nystagmus, make the head of every Down Syndrome person a disagreeable but ready index to his disorder.

The whole body structure is abnormal to some degree, testifying to the wide spread genetic disorder of the condition. The limbs are lax with hyper-mobility at the joints. The feet are broad and clumsy. The hands have short fingers, with a special pattern between the base of the third and fourth fingers, and a crease across the palm). The abdomen has a protuberant belly.

Last revised November 11, 2013