Table 3a.

Differential Diagnosis of Schimke Immunoosseous Dysplasia: Hereditary Osteochondrodysplasias Associated with Nephrotic Syndrome

GeneSyndromeMOIComment
IFT140 Conorenal syndrome (OMIM 266920)ARCone shaped epiphyses w/constricted & short ribs; retinal disease; renal pathology of variable causes (vs in SIOD, in which the cause is nephrotic syndrome); lack of neurologic sequelae in conorenal syndrome
LMX1B Nail-patella syndrome (NPS)ADNPS is assoc w/classic clinical tetrad of changes in nails, knees, & elbows, & presence of iliac horns. In NPS renal disease is due to glomerulonephritis (in SIOD: FSGS/nephrotic syndrome).

AD = autosomal dominant; AR = autosomal recessive; FSGS = focal segmental glomerulosclerosis; MOI = mode of inheritance; SIOD = Schimke immunoosseous dysplasia

From: Schimke Immunoosseous Dysplasia

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