Edwards Syndrome Flashcards
Another name of Edwards syndrome
Trisomy 18 or Trisomy E
What is the genetic abnormality of Edwards syndrome
Presence of all or part of an extra 18th chromosome
(three copies of chromosome 18, instead of two copies)
The most common autosomal trisomy that carries to term
Down’s syndrome
The second common autosomal trisomy that carries to term
Edwards syndrome
Which autosomal trisomy has less chance to go up to term?
Patau syndrome
Incidence of Edwards syndrome
1 per 3,000 live births
Relation between maternal age and incidence of Edwards syndrome
increased maternal age = increased incidence of Edwards syndrome
Brain features of Edwards syndrome
Mental retardation
Developmental delays
Growth deficiency
Microcephaly + Prominent occiput
Learning if Edward syndrome survives to childhood
Profound learning disability
Facial features of Edwards syndrome
Narrow eyelid folds (palpebral fissures)
Widely spaced eyes (Ocular hypertelorism)
Ptosis
Low-set malformed ears
Upturned nose
Cleft lip/Cleft palate
Abnormally small jaw
Respiratory disorder in Edwards syndrome
Breathing difficulties (dyspnoea)
Trunk features in Edwards syndrome
Short sternum
Congenital heart disease
Diaphragmatic hernias
Intestinal features (another card)
Renal abnormalities
Undescended testicles
Intestinal features in Edwards syndrome
Intestines protruding outside the body (Omphalocele)
Oesophageal atresia
Feeding difficulties
Limb features in Edwards syndrome
Absent radius
Underdeveloped thumb or nails
Clenched hands (finger overlap)
Arthrogryposis
Dislocated hips (common)
Short and dorsiflexed great toe
Webbing of the second and thrid toes
Clubfoot
Rocker botton feet (Vertical talus)
Which fingers do overlap on which in Edwards?
2nd and 5th overlap 3rd and 4th
