Rare Disorder: Cretinism is the name given to people that were born with hypothyroidis (caused by congenital absence of the thyroid gland) . It use to take up to 6 mo to a 1 yr of age to diagnose children with this condition and by that time they were mentally retarded and had course facial feautures that were not reversible with treatment. Now we have neonatal screening for this condition if promptly treated
Answered 5/21/2018
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Treatment = normal: W/ early (neonatal) identification of hypothyroidism and prompt treatment, babies born without a functioning thyroid have normal development and normal life expectancy. For someone with untreated cretinism, they would be likely to live into adulthood, but have a shorter-then-normal life expectancy and significant disability. Fortunately, with universal neonatal testing, this is almost nonexistent.
Answered 7/26/2017
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