Achondroplasia is a genetic disorder in which the child has a mutated (abnormal) gene called FGFR3 that is responsible for growth and development. Such infants display prominently short arms and thighs, in other words are dwarfs. They may also exhibit lax joints, overtly curved spine, protruding forehead and flat nose.Diagnosis is made clinically and by X-ray. The foetus can be diagnosed by ultrasound but the test is not reliable. Treatment available is only symptomatic.
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Hospitals and clinics covered by:
Private hospital run by benenden health
Cranbrook, TN17 4AX
01580 242 521
Reveal phone no. >
Private hospital run by BMI Healthcare
Canterbury, CT4 7AR
Orpington, BR6 7RG
Maidstone, ME16 0DU
Longfield, DA3 8ND