Sporadic cretinism (congenital hypothyroidism)

General: Variable, from complete lack of thyroid function to reduced function because of enzyme defects; endemic in particular areas (Crete, Beotia, Alpine Valley); affects both sexes; occurs at birth; normal physical and mental development possible with correct treatment.

Ocular: Nystagmus; piglike eyes.

Clinical: Excessive weight; lethargy; facies with heavy expression; large tongue; open mouth; drooling; yellowish tint on cheeks; hypothermia; altered tone of voice; persistent neonatal jaundice; protuberant stomach; umbilical hernia; dry skin; coarse hair; failure to thrive; poor appetite; constipation; cardiomegaly; slow pulse; delayed sexual development; dwarfism; imbecility; reported coexistence with the CHARGE association (bilateral papillary coloboma, congenital heart disease, dysmorphic ears, sensorineural deafness, psychomotor retardation, cryptorchidism, facial palsy, and vesicoureteral reflux).

Magalini SI, Scrascia E. Dictionary of Medical Syndromes, 2nd ed. Philadelphia: JB Lippincott, 1981.

Marin JF, et al. The CHARGE association and athyreosis. J Med Genet 1991; 28:207-208.