Bangstad syndrome

What is Bangstad syndrome?

Bangstad syndrome is a rare disease. It is also known as Bird-headed Dwarfism With Progressive Ataxia, Insulin-resistant Diabetes, Goiter, And Primary Gonadal Insufficiency.

A 26-year-old man and his 16-year-old sister were described by Bangstad et al., (1989) with a form of microcephalic primordial dwarfism. They were microcephalic and were very short (height < -7 SD). There was, in association, progressive ataxia, goiter, insulin resistant diabetes mellitus and primary gonadal insufficiency. The eyes were said to be small and deep-set, the nose prominent and curved and the forehead receding. Unfortunately, photographs of the cases were not published.
Salerno et al., (2003) reported a very similar case with craniosynostosis, acanthosis nigricans, deafness, mental retardation and endocrine abnormalities including hypothyroidism, hypogonadism, transitory hypoparathyroidism, and insulin resistance. Adenylyl cyclase activity was evaluated by assaying c-AMP in the patient's cultured fibroblasts and suggested a reduced cAMP accumulation in the patient. The authors also noted similarity to the patients described under Scott (1969) (qv).

Read More

* This information is courtesy of the L M D.

If you find a mistake or would like to contribute additional information, please email us at: [email protected]

What gene changes cause Bangstad syndrome?

The syndrome is inherited in the following inheritance pattern/s:

Uncertain - The exact mode of inheritance was unknown at the time this entry was recorded.


In some cases, a genetic syndrome may be the result of a de-novo mutation and the first case in a family. In this case, this is a new gene mutation that occurs during the reproductive process.

OMIM Number - 210740 (please check the OMIM page for updated information)

The syndrome can be caused by mutations in the following gene/s location/s:
N/A

What are the main symptoms of Bangstad syndrome?

The typical symptoms of the syndrome are:
Pancytopenia, Retrognathia, Autosomal recessive inheritance, Seizure, Polycystic ovaries, Primary gonadal insufficiency, Microcephaly, Type I diabetes mellitus, Convex nasal ridge, Progressive cerebellar ataxia, Cerebral hypoplasia, Brain very small, Abnormal testis morphology, Abnormality of the dentition, Abnormality of the parathyroid gland, Hypothyroidism, Incoordination, Hypercortisolism, Hyperinsulinemia, Cognitive impairment, Goiter, Short stature, Small for gestational age, Severe short stature, Deeply set eye, EEG abnormality, Deviation of finger, Micrognathia, Abnormally large globe, Narrow face, Sloping forehead, Intrauterine growth retardation, Intellectual disability, Insulin-resistant diabetes mellitus

How does someone get tested for Bangstad syndrome?

The initial testing for Bangstad syndrome can begin with facial genetic analysis screening, through the FDNA Telehealth telegenetics platform, which can identify the key markers of the syndrome and outline the type of genetic testing needed. A consultation with a genetic counselor and then a geneticist will follow.

Based on this clinical consultation with a geneticist, the different options for genetic testing will be shared and consent will be sought for further testing.

Get Faster and More Accurate Genetic Diagnosis!

More than 250,000 patients successfully analyzed!
Don't wait years for a diagnosis. Act now and save valuable time.

Start Here!

"Our road to a rare disease diagnosis was a 5-year journey that I can only describe as trying to take a road trip with no map. We didn’t know our starting point. We didn’t know our destination. Now we have hope."

Image

Paula and Bobby
Parents of Lillie

What is FDNA Telehealth?

FDNA Telehealth is a leading digital health company that provides faster access to accurate genetic analysis.

With a hospital technology recommended by leading geneticists, our unique platform connects patients with genetic experts to answer their most pressing questions and clarify any concerns they may have about their symptoms.

Benefits of FDNA Telehealth

FDNA icon

Credibility

Our platform is currently used by over 70% of geneticists and has been used to diagnose over 250,000 patients worldwide.

FDNA icon

Accessibility

FDNA Telehealth provides facial analysis and screening in minutes, followed by fast access to genetic counselors and geneticists.

FDNA icon

Ease of Use

Our seamless process begins with an initial online diagnosis by a genetic counselor and follows by consultations with geneticists and genetic testing.

FDNA icon

Accuracy & Precision

Advanced artificial intelligence (AI) capabilities and technology with a 90% accuracy rate for a more accurate genetic analysis.

FDNA icon

Value for
Money

Faster access to genetic counselors, geneticists, genetic testing, and a diagnosis. As fast as within 24 hours if required. Save time and money.

FDNA icon

Privacy & Security

We guarantee the utmost protection of all images and patient information. Your data is always safe, secure, and encrypted.

FDNA Telehealth can bring you closer to a diagnosis.
Schedule an online genetic counseling meeting within 72 hours!