Table 2

Clinical features that may be suggestive of fragile X syndrome

Proband history and physical examFamily history
Macro-orchidism (may not be present until after puberty).
Relative or mild (+2–3 SD) macrocephaly.
Facial features: large or prominent ears, long or narrow face, tall forehead, high-arched palate and prominent jaw.
Connective tissue findings: soft or velvety skin, redundant skin on dorsum of hands, hyperextensible joints, pes planus and mitral valve prolapse.
Behaviour: ASD or autistic features, hyperactivity, shyness, gaze avoidance, hand biting, tactile defensiveness and anxiety.
 In relatives on the maternal side:
  •  Males or females with GDD, ID or ASD.

  •  Females with premature menopause or ovarian insufficiency.

  •  Males or females with adult-onset tremor, ataxia or parkinsonism.

  • ASD, autism spectrum disorder; GDD, global developmental delay; ID, intellectual disability.