Wolcott-Rallison syndrome

Definition:

Wolcott-Rallison syndrome is a rare autosomal recessive disorder characterized by neonatal insulin-requiring diabetes and associated with skeletal dysplasia and growth retardation. Diabetes appears during the first months of life in most patients and major skeletal manifestations include the long bones, pelvis and vertebrae. Liver is also affected in the disease.

References:

[1]. Cécile Julier, et al. Wolcott-Rallison syndrome. Orphanet J Rare Dis. 2010 Nov 4;5:29. [Content Brief]

[2]. S Brickwood, et al. Wolcott-Rallison syndrome: pathogenic insights into neonatal diabetes from new mutation and expression studies of EIF2AK3. J Med Genet. 2003 Sep;40(9):685-9. [Content Brief]

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