Bangstad syndrome

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ORPHA:1227OMIM:210740E31.8
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Overview

Bangstad syndrome is an extremely rare genetic condition that affects multiple body systems, particularly the endocrine (hormone-producing) system. It is also known as lipoatrophic diabetes with other features. The syndrome was first described in the medical literature and is characterized by a combination of problems including severe insulin-resistant diabetes, loss of body fat (lipoatrophy), growth failure leading to short stature, and intellectual disability. Children with this condition typically show signs early in life, including poor growth, abnormal fat distribution, and features of premature aging such as thin skin and early dental problems. The condition also involves multiple hormone glands not working properly, which is why it is classified under polyendocrine disorders. Affected individuals may develop problems with their thyroid, adrenal glands, and other hormone-producing organs. Skin abnormalities, hearing loss, and skeletal changes have also been reported. Because Bangstad syndrome is so rare, there is no specific cure or targeted treatment available. Management focuses on treating each symptom individually. Diabetes is managed with insulin therapy, though the insulin resistance can make blood sugar control very challenging. Hormone replacement therapies may be needed for other endocrine problems. A team of specialists working together is essential to provide the best possible care for affected individuals.

Also known as:

Key symptoms:

Severe insulin-resistant diabetesLoss of body fat under the skin (lipoatrophy)Short stature and poor growthIntellectual disabilityPremature aging appearanceHearing loss or deafnessThin or abnormal skinDental problems or early tooth lossThyroid gland problemsAdrenal gland problemsSkeletal abnormalitiesDelayed developmentSmall head size (microcephaly)Liver enlargement

Clinical phenotype terms (21)— hover any for plain English
Abnormality of the parathyroid glandHP:0000828Increased circulating cortisol levelHP:0003118Deviation of fingerHP:0004097Primary gonadal insufficiencyHP:0008193
Inheritance

Autosomal recessive

Passed on when both parents carry the same gene change; often skips generations

Age of Onset

Infantile

Begins in infancy, roughly 1 month to 2 years old

Orphanet ↗OMIM ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for Bangstad syndrome.

View clinical trials →

No actively recruiting trials found for Bangstad syndrome at this time.

New trials open frequently. Follow this disease to get notified.

Search ClinicalTrials.gov ↗Join the Bangstad syndrome community →

No specialists are currently listed for Bangstad syndrome.

View NORD Rare Disease Centers ↗Undiagnosed Disease Network ↗

Treatment Centers

8 centers
🏥 NORD

Baylor College of Medicine Rare Disease Center

Baylor College of Medicine

📍 Houston, TX

🏥 NORD

Stanford Medicine Rare Disease Center

Stanford Medicine

📍 Stanford, CA

🔬 UDN

NIH Clinical Center Undiagnosed Diseases Program

National Institutes of Health

📍 Bethesda, MD

🔬 UDN

UCLA UDN Clinical Site

UCLA Health

📍 Los Angeles, CA

🔬 UDN

Baylor College of Medicine UDN Clinical Site

Baylor College of Medicine

📍 Houston, TX

🔬 UDN

Harvard/MGH UDN Clinical Site

Massachusetts General Hospital

📍 Boston, MA

🏥 NORD

Mayo Clinic Center for Individualized Medicine

Mayo Clinic

📍 Rochester, MN

👤 Mayo Clinic Center for Individualized Medicine

🏥 NORD

UCLA Rare Disease Day Program

UCLA Health

📍 Los Angeles, CA

Travel Grants

No travel grants are currently matched to Bangstad syndrome.

Search all travel grants →NORD Financial Assistance ↗

Community

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Latest news about Bangstad syndrome

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Caregiver Resources

NORD Caregiver Resources

Support, advocacy, and financial assistance for caregivers of rare disease patients.

Mental Health Support

Rare disease caregiving can be isolating. Connect with counseling and peer support.

Family & Caregiver Grants

Financial assistance programs specifically for caregivers of rare disease patients.

Social Security Disability

Learn how rare disease patients may qualify for SSDI/SSI benefits.

Questions for your doctor

Bring these to your next appointment

  • Q1.What is the best way to manage my child's insulin-resistant diabetes?,Which hormone levels need to be monitored and how often?,Should we pursue genetic testing, and what might it tell us?,What developmental therapies would benefit my child the most?,Are there any clinical trials or research studies we could participate in?,What emergency signs should I watch for, and what should I do if they occur?,How can we coordinate care among all the specialists involved?

Common questions about Bangstad syndrome

What is Bangstad syndrome?

Bangstad syndrome is an extremely rare genetic condition that affects multiple body systems, particularly the endocrine (hormone-producing) system. It is also known as lipoatrophic diabetes with other features. The syndrome was first described in the medical literature and is characterized by a combination of problems including severe insulin-resistant diabetes, loss of body fat (lipoatrophy), growth failure leading to short stature, and intellectual disability. Children with this condition typically show signs early in life, including poor growth, abnormal fat distribution, and features of pr

How is Bangstad syndrome inherited?

Bangstad syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.

At what age does Bangstad syndrome typically begin?

Typical onset of Bangstad syndrome is infantile. Age of onset can vary across affected individuals.