Bangstad syndrome
Findings
No curated finding names Bangstad syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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.
Definition from the Mondo Disease Ontology (MONDO:0008874), read 2026-09-29. CC BY 4.0.
Features
21 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormal testis morphologyHPOHP:0000035
- Very frequent (80% to 99% of cases)
- Abnormality of the dentitionHPOHP:0000164
- Very frequent (80% to 99% of cases)
- Abnormality of the parathyroid glandHPOHP:0000828
- Very frequent (80% to 99% of cases)
- AtaxiaHPOHP:0001251
- Very frequent (80% to 99% of cases)
- Convex nasal ridgeHPOHP:0000444
- Very frequent (80% to 99% of cases)
- Deeply set eyeHPOHP:0000490
- Very frequent (80% to 99% of cases)
Show the remaining 9
- Intrauterine growth retardationHPOHP:0001511
- Very frequent (80% to 99% of cases)
- MicrocephalyHPOHP:0000252
- Very frequent (80% to 99% of cases)
- Narrow faceHPOHP:0000275
- Very frequent (80% to 99% of cases)
- Polycystic ovariesHPOHP:0000147
- Very frequent (80% to 99% of cases)
- Primary gonadal insufficiencyHPOHP:0008193
- Very frequent (80% to 99% of cases)
- SeizureHPOHP:0001250
- Very frequent (80% to 99% of cases)
Where it sits
- A kind of
Other names
1 name
Resolves to: Bangstad syndrome
- Also called
- ataxia-diabetes-goiter-gonadal insufficiency syndrome