Developmental disorders Flashcards
Most common form of Down syndrome
Complete trisomy 21
Two more uncommon forms of Down syndrome
Translocation Down syndrome
Mosaic Down syndrome
Percentage of Down syndrome caused by full trisomy 21
95%
Percentage of Down syndrome caused by translocation
2-3%
Percentage of Down syndrome caused by mosaicism
2-3%
Risk of Down syndrome with a maternal age of 35
1 in 385
Risk of Down syndrome with maternal age of 40
1 in 106
Risk of Down syndrome with maternal age 45
1 in 30
Type of Down syndrome which is inherited
Translocation
Type of Down syndrome which occurs as a random event during early foetal development
Mosaic
Type of Down syndrome caused by non-disjunction, with the extra chromosome coming most often from the mother but also can be from the father
Full trisomy
Typical facial features of Down syndrome
Small mouth and protruding tongue Flat occiput Small low-set ears Upward slanting eyes Epicanthic folds Small, flat nose
Non-facial physical features of Down syndrome
Single palmar crease Sandal gap between toes Hypotonia Low birth weight Short stature Overweight as an adult
Most common cardiac defect associated with Down syndrome
AVSD
Medical comorbidities associated with Down syndrome
Visual problems Ear infections Leukaemia Obesity Underactive thyroid Diabetes Reduced fertility Early onset Dementia Oesophageal atresia Hirschsprung's disease