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12 Cards in this Set
- Front
- Back
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Incidence of Down syndrome
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1:750
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Types of Down syndrome (genetic)
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Trisomy (95%), of which 97% are due to maternal error in meiosis
Mosaic (1%) Robertsonian/translocation, affecting chromosomes 13, 14, 15, 21, can be de novo or inherited |
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Dysmorphic features of Down syndrome
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Flat face, brachycephaly, flat nasal bridge
Downslanting palpebral fissures Large tongue, dysmorphic ears Short neck, excess skin Short stature, at risk for obesity Simian creases, sandal foot deformity |
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Neonatal features of Down syndrome
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hypotonia, joint hypermobility
abnormal Moro reflex flat face, dysmorphism |
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Usual IQ of people with Down syndrome
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50-70
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Extent of developmental delay in Down syndrome
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takes twice as long to reach most milestones
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Cardiac defects associated with Down syndrome (7)
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AVSD
VSD secundum ASD persistent PDA Tetralogy of Fallot MVP Aortic regurgitation |
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Incidence of cardiac defects in Down syndrome
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50%
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GIT disease in Down syndrome
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Coeliac disease (screen after age 2)
Oesophageal atresia/fistula Hirschsprung disease |
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Down syndrome – associated haematological disorders
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Leukaemia - AML, ALL, AMKL
Myelodysplastic syndrome Transient lymphoproliferative syndrome |
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Down syndrome – endocrine disorders
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Hypothyroidism (screen at birth, 6mo, 12mo then yearly)
Diabetes Obesity |
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Down syndrome – management principles
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Screen for cardiac disease
Manage growth, nutrition Behavioural/psych as needed Regular eye and hearing checks TFTs at 0,6,12 months then q12m Coeliac screen at 2y+ Check for AA instability 3-5y FBCs regularly |
