Down’s syndrome is caused by the presence of all or part of extra copy of Chromosome 21. Typically presents with characteristic facial features, moderate intellectual disability, with an average IQ of 50 during the young adult years.
Cause(s) :
Genetic Mutation
Symptoms :
Phenotypic features
Facial features:
Mongoloid eyes/upslanting palpebral fissures
Snub nose
Short ears
Hypotonia
Small chin
Large tongue
Other characteristics:
Short /thick hands and feet
Delayed developmental milestones
Low muscle tone
Moderate intellectual disability
Low muscle tone
Umbilical hernia
Increased distance between first and second toes
Clinical features:
Hypothyroidsm
Dysplastic pelvis
Dementia/premature ageing
Poor reflux
Congenital heart defects
Biochemical features:
Ammonia / Uric acid accumulation
Thyroid dysfunction –hypothyroidism
Immune dysfunction
Poor lipid metabolism
Over expression of enzymes such as Super Oxide Dismutase
Diagnosis and Tests :
Can be identified during pregnancy by prenatal screening and diagnostic testing.
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Not very useful! :[:(:(:(:(:(