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
