[MIM 242 900]

(Spondylo-epiphyseal dysplasia -  nephrotic syndrome -  Schimke syndrome, SIOD)

Rare. Autosomal recessive transmission of a mutation of the SMARCAL1 gene on  2q35 which codes for a protein that remodels the chromatin. 

Association of:

-         spondylo-epiphyseal dysplasia: ovoid and moderately flattened vertebral bodies; deformation of the femoral heads and dysplasia of the hips; osteopenia

-         non-harmonious short stature (99 %): short neck and thorax, lumbar hyperlordosis

-         facial dysmorphism (80 %): triangular face with a short nasal bridge and often a bifid nose tip; very fine hair

-         immune deficiency of T lymphocytes (76 %): major risk of opportunistic infections; sometimes autoimmune manifestations: anticardiolipin, Evans syndrome (see this term), thrombocytopenia

-         renal impairment with glomerulonephritis (99 %) and nephrotic syndrome which is gradually becoming resistant to corticosteroids: hypertension, proteinuria and chronic renal failure (73 %)

-         hyperpigmented cutaneous stains (72 %), mainly on the trunk

-         microdontia or hypodontia (66 %).

Often appearance of an early signs of atheromatosis: migraine type headache, cerebral ischemia, cardiac dysfunction.

Anesthetic implications:

check kidney function, blood pressure, ECG and cardiac function. Check the blood count and formula; early atheromatosis (myocardial and cerebral perfusion); antibiotic prophylaxis; short stature: size of the endotracheal tube ?, increased risk of bronchial intubation; fragile teeth

References : 

-        Stormon M, Friedman J, King S, Cutz E, Furuya KN. 
An unusual cause of diarrhea in Schimke Immuno-Osseous Dysplasia. 
J Pediatr Gastroent Nutr 20032; 35: 369-71

Updated: July 2019