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Disease Profile

Rabson-Mendenhall syndrome

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.

Unknown

Age of onset

Infancy

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ICD-10

E13

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

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

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]

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.

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 Cpeptide 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

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

    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.

        References

        1. Ben Harouch S, Klar A, Falik Zaccai TC. INSR-related severe syndromic insulin resistance. GeneReviews. 2018; https://www.ncbi.nlm.nih.gov/books/NBK476444.
        2. Cochran E. Rabson-Mendenhall Syndrome. National Organization for Rare Disorders (NORD). 2016; https://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Rabson-Mendenhall%20Syndrome. Accessed 11/9/2010.
        3. 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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