Fragile X Syndrome

Swati Kolpuru (Gadewar)
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Clinical Manifestations

PHENOTYPENEUROCOGNITIVE
Large earsMental retardation
Large testes (testicular volume >30 ml in adults)Hyperactivity
Plantar creaseAttentional problems
Hyperextensible jointsLanguage delays
Simian creaseHand flapping
Broad foreheadHand bitingIrritability
Increased hand widthIncreased hand lengthPerseveration
Elongated faceExcessive temper tantrums
High arched palateGaze avoidance
Mitral valve prolapseSensory aversion
HypotoniaHerniaSelf-stimulatory behavior
Double jointed thumbsAutism
Scoliosis

Flat feet


The phenotype can vary from having no craniofacial features to having all features in males and variable intellectual involvement ranging from normal intellectual functioning to profound mental retardation.


Fragile X Syndrome Fragile X Syndrome 12/31/2013
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