Rabson-Mendenhall syndrome

Información en español Title

Other Names:

Pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities; Mendenhall Syndrome; INSR-related severe syndromic insulin resistance

Categories:

Congenital and Genetic Diseases; Endocrine Diseases; Skin Diseases

Subtypes:

Leprechaunism

Summary Summary

Rabson-Mendenhall syndrome (RMS) is a mild form of INSR-related severe syndromic insulin resistance, an inherited disorder associated with the inability to regulate blood sugar.^[1]^[2] Insulin is a hormone produced by the pancreas that normally regulates blood sugar levels by promoting the movement of sugar (glucose) into cells for energy production or into the liver and fat cells for storage.^[2] Symptoms of RMS include poor growth before and after birth, hairiness, muscle wasting (hypertrophy), coarse facial features, abnormalities of the teeth and nails and a skin abnormality known as acanthosis nigricans. In addition, people with RMS have excess blood insulin levels and irregular sugar (glucose) levels. Some people with RMS have developmental and intellectual disabilities.^[1]^[2] Over time, people with RMS can have organ damage due to unregulated blood sugar. This disorder is diagnosed based on the signs and symptoms, laboratory testing, and genetic testing of the INSR gene.^[1]^[3]

RMS is caused by a mutation in the INSR gene and is inherited in an autosomal recessive manner.^[1]^[3] Treatment is difficult and may include high doses of insulin and/or recombinant insulin-like growth factor.^[1] [151491]The long-term outlook for people with RMS is variable. Unregulated sugar levels over a long period of time can lead to a shortened lifespan.^[1]

Donohue syndrome (leprechaunism) is a more severe form of INSR-related syndromic insulin resistance. Symptoms are similar to those seen in RMS, but are more serious. Most children with Donohue syndrome die before one year of age. Type A insulin resistance syndrome (type A) is a milder form of INSR-related syndromic insulin resistance. People with type A are often not diagnosed until their teens.^[1]

Last updated: 1/4/2019

Symptoms Symptoms

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms	Other Names	Learn More: HPO ID
30%-79% of people have these symptoms
Acanthosis nigricans	Darkened and thickened skin	0000956
Clitoral hypertrophy	Enlarged clitoris	0008665
Dental crowding	Crowded teeth Dental overcrowding Overcrowding of teeth [ more ]	0000678
Dry skin		0000958
Enlarged ovaries		0100879
Fasting hyperinsulinemia	High blood insulin levels while fasting	0008283
Fasting hypoglycemia	Low blood sugar when fasting	0003162
Global developmental delay		0001263
Hirsutism	Excessive hairiness	0001007
Hypertrichosis		0000998
Increased C-peptide level		0030796
Increased serum testosterone level		0030088
Insulin-resistant diabetes mellitus	Insulin resistant diabetes Insulin-resistant diabetes [ more ]	0000831
Intellectual disability	Mental deficiency Mental retardation Mental retardation, nonspecific Mental-retardation [ more ]	0001249
Intrauterine growth retardation	Prenatal growth deficiency Prenatal growth retardation [ more ]	0001511
Lichenoid skin lesion		0031452
Long penis	Enlarged penis	0000040
Onychauxis		0012542
Postprandial hyperglycemia		0011998
Recurrent infections	Frequent infections Frequent, severe infections Increased frequency of infection infections, recurrent Predisposition to infections Susceptibility to infection [ more ]	0002719
Reduced subcutaneous adipose tissue	Reduced fat tissue below the skin	0003758
Severe postnatal growth retardation	Marked growth retardation Severe growth delay in children Severe postnatal growth failure [ more ]	0008850
Short stature	Decreased body height Small stature [ more ]	0004322
Thick hair	Increased hair density	0100874
5%-29% of people have these symptoms
Advanced eruption of teeth	Early eruption of teeth	0006288
Anteverted nares	Nasal tip, upturned Upturned nasal tip Upturned nose Upturned nostrils [ more ]	0000463
Atrial septal defect	An opening in the wall separating the top two chambers of the heart Hole in heart wall separating two upper heart chambers [ more ]	0001631
Cardiomyopathy	Disease of the heart muscle	0001638
CNS demyelination		0007305
Coarse facial features	Coarse facial appearance	0000280
Delayed skeletal maturation	Delayed bone maturation Delayed skeletal development [ more ]	0002750
Diabetic ketoacidosis		0001953
Furrowed tongue	Grooved tongue	0000221
Gingival overgrowth	Gum enlargement	0000212
High palate	Elevated palate Increased palatal height [ more ]	0000218
Hypokalemia	Low blood potassium levels	0002900
Hypothyroidism	Underactive thyroid	0000821
Impaired glucose tolerance		0040270
Increased pineal volume		0012686
Low anterior hairline	Low frontal hairline Low-set frontal hairline [ more ]	0000294
Macroglossia	Abnormally large tongue Increased size of tongue Large tongue [ more ]	0000158
Macrotia	Large ears	0000400
Mandibular prognathia	Big lower jaw Increased projection of lower jaw Increased size of lower jaw Large lower jaw Prominent chin Prominent lower jaw [ more ]	0000303
Nephrocalcinosis	Too much calcium deposited in kidneys	0000121
Peripheral neuropathy		0009830
Polydactyly	More than five fingers or toes on hands or feet	0010442
Polydipsia	Extreme thirst	0001959
Precocious puberty	Early onset of puberty Early puberty [ more ]	0000826
Premature graying of hair	Early graying Premature graying Premature greying Premature hair graying [ more ]	0002216
Prominent nasal bridge	Elevated nasal bridge High nasal bridge Prominent bridge of nose Prominent nasal root Protruding bridge of nose Protruding nasal bridge [ more ]	0000426
Retinopathy	Noninflammatory retina disease	0000488
Ventricular septal defect	Hole in heart wall separating two lower heart chambers	0001629
Wide nose	Broad nose Increased breadth of nose Increased nasal breadth Increased nasal width Increased width of nose [ more ]	0000445
Percent of people who have these symptoms is not available through HPO
Autosomal recessive inheritance		0000007
Hyperglycemia	High blood sugar	0003074
Hyperinsulinemia		0000842
Small for gestational age	Birth weight less than 10th percentile Low birth weight [ more ]	0001518

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Last updated: 5/1/2020

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Find a Specialist Find a Specialist

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.

Related Diseases Related Diseases

Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.

Conditions with similar signs and symptoms from Orphanet
Differential diagnoses include early-onset forms of leprechaunism, and moderate and late-onset forms of type A insulin resistance syndrome. Visit the Orphanet disease page for more information.

Research Research

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

ClinicalTrials.gov lists trials that are related to Rabson-Mendenhall syndrome. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.

Organizations Organizations

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Providing General Support

American Diabetes Association
2451 Crystal Drive
Suite 900
Arlington, VA 22202
Toll-free: 1–800–DIABETES (342–2383)
Fax: 703–549–6995
E-mail: AskADA@diabetes.org
Website: http://www.diabetes.org

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Learn More Learn More

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

Genetics Home Reference (GHR) contains information on Rabson-Mendenhall syndrome. This website is maintained by the National Library of Medicine.
The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

In-Depth Information

The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
PubMed is a searchable database of medical literature and lists journal articles that discuss Rabson-Mendenhall syndrome. Click on the link to view a sample search on this topic.

News & Events News & Events

News

NIH-Supported Research Survey to Examine Impact of COVID-19 on Rare Diseases Community
May 22, 2020
NCATS Translational Approach Addresses COVID-19
May 21, 2020

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References References

Ben Harouch S, Klar A, Falik Zaccai TC. INSR-related severe syndromic insulin resistance. GeneReviews. 2018; https://www.ncbi.nlm.nih.gov/books/NBK476444.
Cochran E. Rabson-Mendenhall Syndrome. National Organization for Rare Disorders (NORD). 2016; http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Rabson-Mendenhall%20Syndrome. Accessed 11/9/2010.
Sinnarajah K, Dayasiri MB, Dissanayake ND, Kudagammana ST, Jayaweera AH.. Rabson Mendenhall Syndrome caused by a novel missense mutation. Int J Pediatr Endo. 2016; 2016(21):1-5. https://www.ncbi.nlm.nih.gov/pubmed/27891155.

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