. 2023 Feb 23;60(6):523–532. doi: 10.1136/jmg-2022-108962

Table 2.

Clinical features that may be suggestive of fragile X syndrome

Proband history and physical exam	Family 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.

Proband history and physical exam

Family 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.