What Is Fragile X?

2. Physical Appearance

Patients with fragile X syndrome tend to have a characteristic physical appearance where they have large protruding ears, a high arched palate, overcrowding of teeth, a long face, flat feet, soft skin, hyperextensible finger joints, clubfeet, single palmar crease, scoliosis, caved in or sunken chest (pectus excavatum), hypotonia (low muscle tone), hyperextensible thumbs, and postpubescent macroorchidism (having large testicles after puberty). During childhood, there is also an early growth spurt but their adult height is often average. Patients also tend to be obese during their adolescent and early adulthood years. Strabismus is common while ptosis and nystagmus are occasionally present.

What Is Fragile X?

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