Bangstad syndrome

Bangstad syndrome is a rare endocrine condition that was first described over 30 years ago. It is noted for a unique combination of features including a form of small stature often described as birdheaded nanism, progressive difficulties with balance (ataxia), an enlarged thyroid gland (goiter), issues with the reproductive system (primary gonadal insufficiency), and a form of diabetes that does not respond well to insulin. These features together create a distinct pattern of health challenges. People with Bangstad syndrome also show high levels of various hormones in their blood, such as TSH, PTH, LH, FSH, ACTH, glucagon, and insulin. A possible explanation for these shifts is a defect in the cell membranes that affects many systems in the body. The condition is thought to be inherited in an autosomal recessive manner, meaning that a person would need to receive a copy of the abnormal gene from each parent to develop the syndrome.

The condition is associated with several symptoms. These include a characteristic small stature with a birdlike head shape, problems with balance and coordination (progressive ataxia), an enlarged thyroid (goiter), issues with the reproductive organs (primary gonadal insufficiency), and a type of diabetes that is resistant to insulin. Elevated levels of several hormones have also been noted in people with this syndrome.

Bangstad syndrome is thought to be caused by a genetic defect that affects cell membranes throughout the body. It is believed to be inherited in an autosomal recessive pattern, which means that a person would need to inherit two copies of the faulty gene, one from each parent, to develop the condition.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about current research is currently limited for this condition. There have been no further descriptions in the literature since 1989, and additional research may be needed to better understand this syndrome.