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Childhood Syndromes (Patau syndrome (trisomy 13) (Features (Microcephaly,…

- - - - Clenched hands
      - Rocker bottom feet
      - Clubbed feet
- - - - Brushfield spots
      - Myopia
      - Cataracts
    - - Delayed fontanelle closure
      - Mild microcephaly
      - Hypotonia
    - - Duodenal atresia
        
        Double bubble appearance
        
        Polyhydramnios
      - Hirschsprung disease
    - - Epicanthic folds
      - Upslanting palpebral fissures
      - Flat nasal bridge
      - Protruding tongue
    - - Sandal toe gap
      - Single palmar crease
      - Atlanto-axial instability
      - Short 5th digit with clinodactyly
    - - Hypothyroidism (6%)
      - Diabetes
    - - AVSD, ASD, VSD
      - Abnormality in 50%
- - - - Results from constant appetite, related to high ghrelin
- - - - Bicuspid aortic valve
      - Coarctation of the aorta
- - - - .>200 repeats = methylation and complete silencing
  - - - Don't normally show until puberty
      - Macrocephaly
      - Large ears
      - Long face
      - Macro-orchidism
      - Soft skin
      - Flat feet
      - High-arched palate
      - Hyperextensible joints
      - 10-40% develop seizures
      - Strabismus
    - - Spectrum from normal IQ to severe intellectual disability
      - Average IQ of 40 in males with complete silencing of FMR1 gene
      - Verbal ability typically spared
    - - Characterised by social anxiety
      - Can show greater empathy than those with other causes of intellectual disability
      - ADHD in majority of males and 30% of females
- - - - Restricted intrauterine growth of the mandible
      - Increased flexion of the neck, compresses mandible against sternoclavicular joint
      - Subsequent growth of the tongue can cause cleft palate
    - - Usually a de novo mutation
      - GAD1, PVRL1, SOX9, KCNJ2 genes have all been implicated
      - Often part of an underlying disorder eg. DiGeorge, Patau, foetal alcohol syndrome
- - - - Supravalvular aortic stenosis
      - Hyperacusis and phonophobia
      - Transient neonatal hypercalcaemia
      - Strabismus
      - Short stature
    - - Mild to moderate intellectual disability
      - Highly verbal, relative to IQ
      - Lack of social inhibition
        
        Often report having few friends due to trouble interacting on a deeper level