Hutterite Cerebroosteonephrodysplasia Syndrome

Clinical Features

In 2 Hutterite sisters, Opitz et al. (1985) reported a disorder characterized by congenital shortness with mild spondylorhizomelic dwarfism; later deceleration of weight gain presumably due to CNS-based severe feeding problems; a CNS defect with normal prenatal brain growth but later deceleration from the 50th to the 2nd centile with severe mental retardation and decorticate disturbance of neurologic function and possible renal involvement with terminal nephrotic syndrome. The older sister died at age 3 years. Because of cultural limitations the affected sibs were incompletely studied. Lowry (1997) reported that 1 of the Hutterite sisters originally reported by Opitz et al. (1985) died at 2 years and the other at 3 years after a clinical course of a severe degenerative cerebral condition. He later saw another patient with the same clinical presentation who was a first cousin once removed of the 2 sisters reported by Opitz et al. (1985).

Udler et al. (1997) described an Israeli-Jewish child of Yemenite origin who, they suggested, may be affected with this disorder. Height was below the 3rd centile due to skeletal abnormalities. Intelligence was borderline. There was marked proteinuria and she was in renal failure. Skeletal abnormalities consisted of platyspondyly and delayed ossification of the vertebral bodies. The trunk was short.