Down syndrome is the most common autosomal chromosome abnormality.
Incidence of 1:600-1:800.
Mental retardation accompanies Down syndrome, with IQ between 20-80.
Children frequently have a
Between 30-50% of children have congenital heart disease
a simple case introducing clincial presentation and calling for a differential diagnosis. To get students thinking.
Risk is ~1/2000 for a 20 year old mother, ~1/100 for a 40 year old mother, and ~1/30 for a 45 year old mother.
no one feature that all children with Down's syndrome have, and no one feature distinguishes Down's children from others
Eyes: upslanted epicanthal folds, speckled iris (Brushfield spots), refractive errors, strabismus
Ears: low-set, small, overfolded upper helix
Face: protruding tongue, large cheeks, low, flat nasal bridge
Skin: excess nuchal skin
MSK: short, joint hyperflexibility, atlantoxaial instability
GI: duodenal, esophageal, anal atresia, TE fistula, Hirschprung disease, chronic constipation
CV: 40%, especially AVSD
GU: cryptorchidism, small penis
hands: palmar (Simian) crease
Thyroid function should be assessed
Eyes in newborn period: strabismus and cataracts
Lateral flexion-extension of cervical spine for instability
Heart (50% congenital haert defects)
life expectancy is ~60 without CHD
increased mortaility due to infections, CHD, malignancy
congenital heart disease is present in 40% of people with Down's Syndrome.
Common problems include:
Gastrointestinal conditions include esophageal and duondenal atresia, as well as celiac disease.
Infants can have increased length of physiologic jaundice, polycythemia, and a temporary leukocytosis.