Definition

Bassen-Kornzweig syndrome is a rare genetic disorder that is characterized by an inability to properly absorb dietary fats, resulting in neurological abnormalities, degeneration of the retina of the eye, a typical red blood cell abnormality ("burr-cell" malformation), and failure to thrive (grow and gain weight) during infancy.

Description

Bassen-Kornzweig syndrome is inherited as an autosomal recessive disorder, which means that parents of affected individuals are themselves unaffected carriers, and that they have a 25% risk of having an affected child in each pregnancy. Alternate names for this disorder include abetalipoproteinemia, acanthocytosis, and apolipoprotein B deficiency. Affected individuals can have severe, irreversible neurological impairments, especially if untreated. Psychological counseling for parents and family members is often helpful. There are support groups that are useful in...