The Wolcott-Rallison Syndrome (RWS) is a rare genetic disorder that often presents with neonatal or early infantile insulin-dependent diabetes associated with reduced pancreatic beta cells.

Chromosome: 2p11.2

Gene affected: EIF2AK3 (eukaryocytic translation initiation factor 2 alpha kinase 3


Inheritance: autosomal recessive (consanguinity common)


Key features:

(1) neonatal or early infantile onset of insulin-dependent diabetes mellitus

(2) multiple epiphyseal dysplasia

(3) osteoporosis

(4) growth retardation and short stature

(5) fulminant liver failure


Other findings may include:

(1) renal dysfunction

(2) mental retardation

(3) cardiovascular disease

(4) microcephaly

(5) hepatomegaly

(6) barrel-shaped chest

(7) high-arched palate

(8) depressed nasal bridge

(9) hypertelorism

(10) upslanting palpebral fissures

(11) pre-auricular pits

(12) odontoid hypoplasia in the spine

(13) multiple orthopedic abnormalities in limbs, hands and feet

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