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Bangstad syndrome

Disease 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.

ORPHA:1227

  • Synonym(s):
    • Ataxia-diabetes-goiter-gonadal insufficiency syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Neonatal
  • ICD-10: E31.8
  • OMIM: 210740
  • UMLS: C0342284
  • MeSH: C537902
  • GARD: 812
  • MedDRA: -
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