Down Syndrome Flashcards
What is the result of Trisomy 21?
Down Syndrome
What is the incidence of DS?
1: 600 - 800 births
What is the most common abnormality of autosomal chromosomes?
Trisomy 21
How does risk of T21 change with maternal age?
1:1500 at age 20 to 1:20 at 45y
What are the cranial / brain features of T21?
- Mild microcephaly
- Flat occiput
- 3rd fontanelle
- Brachycephaly
What are the eye features of T21?
- Upslanting palpebral fissures
- Inner epicanthal folds
- Speckled iris (Brushfield spots)
- Refractive errors (myopia)
- Acquired cataracts
- Nystagmus
- Strabismus
Ear features of T21?
- Low, small set ears with over-folded upper helix
- Frequent AOM
- Hearing loss
Facial features of T21?
- protruding tongue
- large cheeks
- low flat nasal bridge
- small nose
Skeletal / MSK features of T21?
- Short stature
- Excess nuchal skin
- Joint hyper flexibility (80%) inc dysplastic hips, vertebral anomalies, atlantoaxial instability
Cardiac defects a/w T21?
50% esp AVSD
GIT defects a/w T21?
- Duodenal / oesophageal / anal atresia
- TOF
- Hirschsprung’s disease
- Chronic constipation
GUT changes with T21?
- Cryptorchidism.
- Rarely fertile
CNS features of T21?
- Hypotonia at birth
- Low IQ
- Developmental delay
- Hearing problems
- Onset of AD in early 40s
Hand features of T21?
- Transverse, single palmar crease
- Clinodactyly
- Absent middle phalanx of 5th finger
What are common medical conditions concurrent with T21?
- Polycythemia
- Hypothyroidism
- 1% lifetime risk of leukemia
Prenatal management for children with T21?
- Counselling
- Plan for delivery
- Geneticist referral
What should be conducted prior to discharge from hospital for baby with T21?
- PEx: for T21 features esp CV, GIT, opthal complications
- Chromosomal analysis to confirm
- Genetic counselling (risk of recurrence)
- Echo
- Audiology and ENT assessment
- TSH
What should be considered in child with T21 who is constipated?
- Hypotonia
- Hypothyroidism
- GIT anomalies
- Hirschprung’s
