Pathophysiology and Clinical

Manifestation Of Down Sindrome

Clinacal manifestation
1. Mental retardation
Down syndrome is the cause of the most
common mental retardation. Children with
Down syndrome is often difficult to learn to
speak, in part because they have bad hearing.
Their language is sometimes difficult to
understand. In many cases, they need more
time to understand the situation and new
things.

2. Physical appearance
People with Down syndrome usually can be identified by their distinctive
appearance:
The short head (brachycephaly) with a flat head, short neck, round face and flat
slanted eyes with delicate folds of skin at the inner corner of the eye
(epicanthus) and protruding eyeballs
The bright white spots on the iris at the time of the baby (Brushfield spots),
which disappeared after adult
usually on their skin xerosis obtained, the lesions localized hyperkeratosis, line transverse lines on the palm of the hand, only one crease on the fifth finger,
elastosis serpiginosa, alopecia areata, vitiligo, follikulitis, abscesses and recurrent
infections of the skin
The root of the nose is flat and wide
The mouth is always open and excess saliva
grooved tongue are often too large and protruding from the mouth
(macroglossia)
The distance between the thumb width and the other toes (sandal gap)
palms wide with a short radius.
The ears are small and round the fold.
Folds simian (transverse grooves in the sole, starting below the index finger and
the little finger extends downward).
Growth is inhibited. Persons with Down syndrome are generally sized body
below the average (dwarfism). Many less developed muscles (hypotonia), and
delayed reflexes.