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Fragile X
syndrome (Complications (Joint laxity, Scoliosis, MV prolapse,…
Fragile X
syndrome
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Pathophysiology
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Outcome
All males affected, some female carriers have milder version
Some males can be unaffected but transmit to grandsons via their daughters, due to variation in size of the TNR
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Diagnosis
History
Dysmorphic features,
developmental delay,
learning difficulties,
behavioural problems
Examination
Characteristic facies, macrocephaly,
post-pubertal macroorchidism,
may have heart murmur (MV prolapse)
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Management
Conservative
Information, advice, support
Genetic counselling
Manage co-morbid disorders
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