Bangstad syndrome

Other names| Ataxia-diabetes-goiter-gonadal insufficiency syndrome
This condition is inherited in an autosomal recessive manner

Bangstad syndrome is a severe, inherited congenital disorder associated with abnormalities of the cell membrane.

It was characterized in 1989 by H. J. Bangstad.[1]

## Contents

* 1 Presentation
* 2 Diagnosis
* 3 Treatment
* 4 References
* 5 External links

## Presentation

Presenting at birth,[2] features of the disorder include moderately severe IUGR, microcephaly, craniosynostosis, moderately severe post-uterine growth retardation, deafness, deep-set eyes, cryptorchidism, truncal obesity[clarification needed] and acanthosis nigricans, small teeth, prognathism, dislocated radial heads without generalized skeletal dysplasia, however, tall vertebrae, moderate mental retardation, hypothyroidism, insulin resistance, hypoparathyroidism.[3]

## Diagnosis

Thyroid-stimulating hormone, parathyroid hormone, luteinizing hormone, follicle-stimulating hormone, adrenocorticotropic hormone, glucagon, and insulin levels in the blood are usually elevated.[3]

## Treatment

## References

1. ↑ Bangstad HJ; Beck-Nielsen H; Hother-Nielsen O et al. (May 1989). "Primordial birdheaded nanism associated with progressive ataxia, early onset insulin resistant diabetes, goiter and primary gonadal insufficiency. A new syndrome". Acta Paediatr Scand 78 (3): 488–93. doi:10.1111/j.1651-2227.1989.tb11119.x. PMID 2662702.
2. ↑ Bruno Bissonnette; Igor Luginbuehl; Bernard J. Dalens (20 July 2006). Syndromes: rapid recognition and perioperative implications. McGraw-Hill Professional. pp. 92–. ISBN 978-0-07-135455-4. https://books.google.com/books?id=uRR1MYa-w5wC&pg=PT92. Retrieved 29 June 2010.
3. ↑ 3.0 3.1 "Bangstad syndrome". January 8, 2021. https://rarediseases.info.nih.gov/diseases/812/bangstad-syndrome.

## External links

Classification|

* ICD-10: E31.8
* OMIM: 210740
* MeSH: C537902

|

External resources|

* Orphanet: 1227

0.00

(0 votes)

Original source: https://en.wikipedia.org/wiki/Bangstad syndrome. Read more

|

Retrieved from "https://handwiki.org/wiki/index.php?title=Medicine:Bangstad_syndrome&oldid=1012848"