HUM-MOLGEN DIAGnostics/Clinical Research

24 August 1997
Schimke immunoosseous dysplasia

Schimke immunoosseous dysplasia (SID) is an autosomal recessive spondylo epiphyseal dysplasia which is characterized by (1) disproportionate short stature, (2) progressive steroid resistant nephrotic syndrome, (3) cellular immunodeficiency, (4) vascular disease (arteriosclerosis, cerebral ischemic events), and (5) hyperpig-mented macules.
The onset of growth failure is usually within the first 5 years of life.
Renal dysfunction is usually noted within a year of the onset of growth failure. The severity of the immunodeficiency and vascular disease are quite variable. We are studying SID with the objectives of (1) further defining the clinical course and phenotype of SID, (2) identifying the genetic basis of SID, (3) delineating the pathophysiology of SID, and (4) identifying effective therapies. In order to pursue these objectives, we are searching for more SID families and are happy to collaborate with other groups who are aware of SID families.

Cornelius Boerkoel
Division of Clinical Genetics
Hospital for Sick Children
555 University Ave.
Toronto, Ontario M5G 1X8 Canada
Ph. 416-813-5338
FAX 416-813-5345