/Bangstad syndrome

Bangstad syndrome

Rare Disease

MONDO:0008874

Also Known As

Bangstad syndromeataxia-diabetes-goiter-gonadal insufficiency syndromeBird-headed dwarfism with progressive ataxia, insulin-resistant diabetes, goiter and primary gonadal insufficiencyBird-headed dwarfism with progressive ataxia, insulin-resistant diabetes, goiter, and primary gonadal insufficiencyBird-headed dwarfism with progressive ataxia, insulin-resistant diabetes, goitre and primary gonadal insufficiency

Definition

Bangstad syndrome is a rare endocrine disease characterized by the association of primordial birdheaded nanism, progressive ataxia, goiter, primary gonadal insufficiency and insulin resistant diabetes mellitus. Plasma concentrations of TSH, PTH, LH, FSH, ACTH, glucagon, and insulin are usually elevated. A generalized cell membrane defect was suggested to be the pathophysiological abnormality in these patients. The mode of inheritance was thought to be autosomal recessive. There have been no further descriptions in the literature since 1989.