Familial ichthyosis, dwarfism, mental retardation, and renal disease.
The nonrandom association of congenital ichthyosis with neurologic impairment, ectodermal dysplasia, dwarfism, hypogonadism, and renal disease has prompted the review of numerous syndromes. The difficulties in characterization of syndromes in the absence of pathognomonic signs is discussed in relation to three siblings presented herein. Despite extensive investigation, underlying metabolic defects remain obscure.
D000328:Adult; D004392:Dwarfism / Q000150:complications / Q000235:genetics*; D005260:Female; D006801:Humans; D006973:Hypertension / Q000150:complications / Q000235:genetics; D007006:Hypogonadism / Q000150:complications / Q000235:genetics; D007057:Ichthyosis / Q000150:complications / Q000151:congenital / Q000235:genetics*; D008607:Intellectual Disability / Q000150:complications / Q000235:genetics*; D007674:Kidney Diseases / Q000150:complications / Q000235:genetics*; D008297:Male; D010264:Paraplegia / Q000150:complications / Q000235:genetics; D013035:Spasm / Q000150:complications / Q000235:genetics