Living with Rabson-Mendenhall syndrome
A rare genetic condition with severe insulin resistance that leads to diabetes, slow growth, and skin and body changes.
Understanding Rabson-Mendenhall syndrome
This affects blood sugar and eventually leads to diabetes. It also affects growth and development of many parts of the body. People are unusually small starting before birth, and babies don't gain weight as expected. Other early features include little fat under the skin, muscle wasting, dental differences, extra body hair, and thick, dark, velvety skin in body folds (acanthosis nigricans). It is one of the inherited severe insulin resistance syndromes, which also include Donohue syndrome.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Insulin resistance and diabetes
- Thick, dark, velvety skin (acanthosis nigricans)
- Slow growth
- Extra body hair (hirsutism)
- Dental crowding and other dental differences
- Delayed development
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include genetic specialists, hormone specialists and skin, hair, and nail specialists.
- 3Consider genetic testing
Changes in INSR are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Genetic specialists (geneticists); Hormone specialists (endocrinologists); Skin, hair, and nail specialists (dermatologists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Children's Skin Disease Foundation
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
This condition is caused by changes in the INSR gene. A child inherits a changed copy of the gene from each parent (autosomal recessive).
Also known as: mendenhall syndrome; pineal hyperplasia and diabetes mellitus syndrome; pineal hyperplasia, insulin-resistant diabetes mellitus and somatic abnormalities; pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities
Patient organizations
- Children's Skin Disease FoundationSkin diseases · United States
Broader rare-disease groups
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Rabson-Mendenhall syndrome.
Explore research for Rabson-Mendenhall syndrome
Explore actively recruiting Rabson-Mendenhall syndrome studies with HealthSpark.
Find actively recruiting studies for Rabson-Mendenhall syndrome with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
Powered by HealthSpark, our AI chat helper
I can help you find recruiting Rabson-Mendenhall syndrome studies. Enter a ZIP code, address or city below and I'll look within 50 miles.
Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
Get Signals for Rabson-Mendenhall syndrome
Stay in the loop with community stories and updates from medical researchers.
Create a living journal that talks back
HealthStory evolves private journaling with a living AI journal that talks back and asks thoughtful questions, helping you capture your Rabson-Mendenhall syndrome experiences more deeply and prepare for better conversations with your doctors and care team.
Your journal is private. Sharing your story publicly is a separate choice, made with Share your story above.