Rare metabolic disorder characterized by early onset
of diabetes mellitus in the infancy period, multiple epiphyseal dysplasia,
multiple fractures, microcephaly, short stature, hypertonia, barrel-shaped
chest, hepatomegaly, tooth discoloration, gray-blue sclerae, high-arched
palate, and skin abnormalities. Epiphyseal dysplasia and growth retardation
have onset within the first 2 years of life.