Down's syndrome: features

Down's syndrome: features

• face: upslanting palpebral fissures
  Down syndrome - upslanting palpebral fissures
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  Importance: 26
  , epicanthic folds
  Down syndrome - epicanthic folds
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  Importance: 33
  , Brushfield spots in iris
  Brushfield spots are small grey or brown spots seen on the periphery of the iris. They are associated with Down syndrome.
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  Importance: 34
  , protruding tongue, small low-set ears
  Down syndrome - low-set ears
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  Importance: 27
  , round/flat face
• flat occiput
  Down syndrome - flat occiput
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  Importance: 16
• single palmar crease
  Down syndrome - single palmar crease
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  Importance: 17
  , pronounced 'sandal gap' between big and first toe
  Down syndrome - pronounced 'sandal gap' between big and first toe
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  Importance: 26
• hypotonia
  Down syndrome - hypotonia
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  Importance: 21
• congenital heart defects (40-50%, see below)
• duodenal atresia
  Down syndrome - duodenal atresia
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  Importance: 15
• Hirschsprung's disease
  Hirschprung's disease is associated with Down syndrome
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  Importance: 12

• multiple cardiac problems may be present
• endocardial cushion defect
  Down syndrome - endocardial cushion defect
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  Importance: 53
  (most common, 40%
  Atrioventricular septal defects are the most common congenital cardiac abnormality in Down's syndrome
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  Importance: 74
  , also known as atrioventricular septal canal defects)
  • results from failure of endocardial cushion fusion, leading to defects in both the atrial and ventricular septa and a single common atrioventricular valve.
• ventricular septal defect
  Down syndrome - ventricular septal defect
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  Importance: 3
  (c. 30%)
• secundum atrial septal defect
  Down syndrome - secundum atrial septal defect
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  Importance: 15
  (c. 10%)
• tetralogy of Fallot
  Down syndrome - tetralogy of Fallot
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  Importance: 17
  (c. 5%)
• isolated patent ductus arteriosus
  Down syndrome - isolated patent ductus arteriosus
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  Importance: 18
  (c. 5%)

• subfertility
  Down syndrome - subfertility/infertility
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  Importance: 25
  : males are almost always infertile due to impaired spermatogenesis. Females are usually subfertile, and have an increased incidence of problems with pregnancy and labour
• learning difficulties
• short stature
  Down syndrome - short stature
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  Importance: 20
• repeated respiratory infections
  Down syndrome - recurrent chest infections
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  Importance: 20
  (+hearing impairment from glue ear)
• acute lymphoblastic leukaemia
  Children with Down syndrome have an increased risk of acute lymphoblastic leukaemia
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  Importance: 46
• hypothyroidism
  Down syndrome is associated with hypothyroidism
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  Importance: 29
• Alzheimer's disease
  Down syndrome - Alzheimer's disease
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  Importance: 58
• atlantoaxial instability
  Screen for atlanto-axial instability in people with Down syndrome who participate in sports that may carry an increased risk of neck dislocation (e.g. trampolining, gymnastics, boxing, diving, rugby and horse riding)
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  Importance: 41