Bangstad syndrome
From Wikipedia, the free encyclopedia
| 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]
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 and acanthosis nigricans, small teeth, prognathism, dislocated radial heads without generalized skeletal dysplasia, however, tall vertebrae, moderate intellectual disability, hypothyroidism, insulin resistance, hypoparathyroidism.[3]