" /> Fetal iodine deficiency disorder - CISMeF





Preferred Label : Fetal iodine deficiency disorder;

Symbol : FIDD;

CISMeF acronym : FIDD;

Type : Other, mainly phenotypes with suspected mendelian basis;

Alternative titles and symbols : Endemic cretinism;

Description : The clinical manifestations of mental retardation, spastic diplegia, and congenital deafness in various degrees are known as the neurologic type of endemic cretinism, which occurs in countries with high goiter endemicity. Maternal iodine deficiency has been established as a major cause. On the basis of studies of 70 families with endemic cretinism from Highland Ecuador, Held et al. (1990) suggested that an autosomal recessive predisposition is a major etiologic factor. A segregation analysis of 49 families yielded an estimate of P 0.245. Half sibs were all unaffected and no significant birth order effect was observed among 101 probands. Because the neurologic type of endemic cretinism represents a defined subset of the iodine deficiency disorders, Held et al. (1990) suggested the designation fetal iodine deficiency disorder (FIDD) rather than cretinism.;

Inheritance : Autosomal recessive predisposition;

Prefixed ID : 228355;

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03/05/2025


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