Examples of common syndromess
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Down's Syndrome
- Commonest chromosomal abnormality seen in people with learning disability and the commonest identifiable cause of learning disability.
- Usually moderate to severe learning disability.
- Typical facial appearance: small ears and eyes, small head, protruding tongue. Short stature.
- Common physical health problems: Many, including congenital heart defects, hypothyroidism, visual disorders (especially cataract and keratoconus), hearing impairment (middle ear infections, conductive hearing loss, early onset of presbyacusis), obesity, epilepsy, degenerative spine disorders, atlanto-axial joint subluxation, peridontal and dermatological problems, diabetes mellitus, coeliac disease, hypotension, respiratory and other infections (to poor immunological defence mechanisms), leukaemia and obstructive sleep apnoea.
- Psychiatric problems: high rates of early onset dementia of Alzheimer's type and depression.
Fragile X
- Commonest inherited cause of learning disability.
- Usually borderline to moderate learning disability.
- Typical facial appearance: Large head circumference, long and prominent ears.
- Physical associations: Examples include mitral valve prolapse, lax joints, scoliosis, flat feet, testicular enlargement.
- Behavioural associations: poor concentration, hyperkinetic behaviour, avoidance of eye contact.
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