Conditions / Syndrome
Wolcott-Rallison syndrome
info · Syndrome · ICD-10: E13
A syndrome that is characterized by permanent neonatal diabetes mellitus with multiple epiphyseal dysplasia, osteoporosis, growth retardation and frequently hepatic and renal dysfunction that has_material_basis_in homozygous mutation in the eukaryotic translat
A syndrome that is characterized by permanent neonatal diabetes mellitus with multiple epiphyseal dysplasia, osteoporosis, growth retardation and frequently hepatic and renal dysfunction that has_material_basis_in homozygous mutation in the eukaryotic translation initiation factor 2 alpha kinase 3 (EIF2AK3) gene on chromosome 2p11.2.
Signs and symptoms
- Epiphyseal dysplasia
- Insulin-resistant diabetes mellitus
- Hypertonia
- Preauricular pit
- Upslanted palpebral fissure
- Carpal bone hypoplasia
- Barrel-shaped chest
- Hypoplasia of the odontoid process
- Short stature
- Renal insufficiency