Physical characteristics

Typical physical characteristics of fragile X syndrome include large or prominent ears, a long face, and in postpubertal males macro-orchidism (ie abnormally large testes). Other physical features may include:

high, broad forehead
high, arched or cleft palate
hypotonia
congenital hip dislocation
sunken chest.

The physical signs of fragile X syndrome are sometimes absent, or they can be subtle and may be overlooked.

Fragile X syndrome is associated with physical health problems, see Physical health problems commonly seen in fragile X syndrome.

Table 1. Physical health problems commonly seen in fragile X syndrome
body system	physical health problem
cardiovascular	mitral valve prolapse, aortic root dissection or rupture
dental	crowded teeth, caries, gingivitis, root abscess
dermatological	dry skin, eczema, striae
ear, nose and throat	recurrent otitis media, hearing loss
gastrointestinal	constipation, reflux oesophagitis
neurological	epilepsy—tonic-clonic seizures, complex partial seizures
nutrition	obesity, undernutrition
eye disorders and vision problems	strabismus, visual perception defects
orthopaedic	pes planus, hyperextensible joints, scoliosis, asymmetrical leg length
urogenital	female: polycystic ovaries, vesicoureteric reflux, renal abnormalities [NB1] male: undescended testes, hypospadias, vesicoureteric reflux, renal abnormalities (eg absent or pelvic kidney)
Note: Fragile X-associated primary ovarian insufficiency (FXPOI) is not part of fragile X syndrome and occurs only with the premutation, see Cause of fragile X syndrome: Overview. Adapted with permission from the Fragile X Alliance Inc. Melbourne.