Leprechaunism

Title

Other Names:

Donohue syndrome

Categories:

Congenital and Genetic Diseases; Endocrine Diseases; Skin Diseases

This disease is grouped under:

Rabson-Mendenhall syndrome

Summary Summary

Leprechaunism is a congenital (present from birth) condition characterized by extreme insulin resistance, pre- and postnatal growth delays, characteristic facial features, skin abnormalities, muscular hypotrophy (reduced muscle mass) and enlarged external genitalia in both males and females. The condition is caused by mutations in the insulin receptor gene (INSR) gene. It is inherited in an autosomal recessive manner.^[1]^[2]^[3]

Last updated: 9/15/2014

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
80%-99% of people have these symptoms
Fasting hypoglycemia	Low blood sugar when fasting	0003162
Hyperkeratosis		0000962
Insulin resistance	Body fails to respond to insulin	0000855
Postnatal growth retardation	Growth delay as children	0008897
Postprandial hyperglycemia		0011998
Reduced subcutaneous adipose tissue	Reduced fat tissue below the skin	0003758
Severe intrauterine growth retardation	Severe prenatal growth deficiency	0008846
30%-79% of people have these symptoms
Abdominal distention	Abdominal bloating Abdominal swelling Belly bloating Bloating [ more ]	0003270
Acanthosis nigricans	Darkened and thickened skin	0000956
Clitoral hypertrophy	Enlarged clitoris	0008665
Enlarged kidney	Large kidneys	0000105
Facial hypertrichosis	Increased facial hair growth	0002219
Failure to thrive	Faltering weight Weight faltering [ more ]	0001508
Hepatomegaly	Enlarged liver	0002240
Hyperinsulinemia		0000842
Hypertrophic cardiomyopathy	Enlarged and thickened heart muscle	0001639
Intellectual disability	Mental deficiency Mental retardation Mental retardation, nonspecific Mental-retardation [ more ]	0001249
Labial hypertrophy	Enlargement of the labia Enlargement of the vaginal lips [ more ]	0000065
Long penis	Enlarged penis	0000040
Overgrowth of external genitalia		0003247
Prominent nipples		0004405
Recurrent infantile hypoglycemia	Recurrent low blood sugar in infant	0004914
Severe global developmental delay		0011344
Skeletal muscle atrophy	Muscle degeneration Muscle wasting [ more ]	0003202
5%-29% of people have these symptoms
Central hypothyroidism		0011787
Enlarged ovaries		0100879
Hyperaldosteronism	Elevated plasma aldosterone Increased aldosterone Increased aldosterone production [ more ]	0000859
Hypercalciuria	Elevated urine calcium levels	0002150
Hyperextensible skin	Hyperelastic skin Skin hyperelasticity Stretchable skin [ more ]	0000974
Hypertelorism	Wide-set eyes Widely spaced eyes [ more ]	0000316
Hypokalemia	Low blood potassium levels	0002900
Increased circulating renin level	Elevated blood renin level	0000848
Large hands	large hand	0001176
Long foot	Disproportionately large feet large feet long feet [ more ]	0001833
Low-set ears	Low set ears Lowset ears [ more ]	0000369
Megarectum		0025024
Microcephaly	Abnormally small skull Decreased circumference of cranium Decreased size of skull Reduced head circumference Small head circumference [ more ]	0000252
Muscular hypotonia of the trunk	Low muscle tone in trunk	0008936
Nephrocalcinosis	Too much calcium deposited in kidneys	0000121
Pointed chin	Pointy chin Small pointed chin Witch's chin [ more ]	0000307
Protruding ear	Prominent ear Prominent ears [ more ]	0000411
Rectal prolapse	Rectum protrudes through anus	0002035
Thick vermilion border	Full lips Increased volume of lip Plump lips Prominent lips Thick lips [ more ]	0012471
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
Abnormality of the abdominal wall		0004298
Adipose tissue loss	Loss of fat tissue	0008887
Autosomal recessive inheritance		0000007
Cholestasis	Slowed or blocked flow of bile from liver	0001396
Delayed skeletal maturation	Delayed bone maturation Delayed skeletal development [ more ]	0002750
Elfin facies	Elf-like facial appearance Elf-like facial features [ more ]	0004428
Gingival overgrowth	Gum enlargement	0000212
Hepatic fibrosis		0001395
Hyperglycemia	High blood sugar	0003074
Hypermelanotic macule	Hyperpigmented spots	0001034
Hypertrichosis		0000998
Intrauterine growth retardation	Prenatal growth deficiency Prenatal growth retardation [ more ]	0001511
Macrotia	Large ears	0000400
Nail dysplasia	Atypical nail growth	0002164
Ovarian cyst		0000138
Pancreatic islet-cell hyperplasia		0004510
Precocious puberty	Early onset of puberty Early puberty [ more ]	0000826
Proptosis	Bulging eye Eyeballs bulging out Prominent eyes Prominent globes Protruding eyes [ more ]	0000520
Recurrent infections	Frequent infections Frequent, severe infections Increased frequency of infection infections, recurrent Predisposition to infections Susceptibility to infection [ more ]	0002719
Severe failure to thrive	Severe faltering weight Severe weight faltering [ more ]	0001525
Small face	Short and narrow face Small facies [ more ]	0000274
Thick lower lip vermilion	Increased volume of lower lip Plump lower lip Prominent lower lip [ more ]	0000179
Wide mouth	Broad mouth Large mouth [ more ]	0000154

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Do you have more information about symptoms of this disease? We want to hear from you.

Last updated: 2/1/2021

Do you have updated information on this disease? We want to hear from you.

Diagnosis Diagnosis

Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

Testing Resources

The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
Orphanet lists international laboratories offering diagnostic testing for this condition.

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 MedlinePlus Genetics.

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
The differential diagnosis should include the other forms of extreme insulin resistance. 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 Leprechaunism. 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.

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 Leprechaunism. 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 Leprechaunism. Click on the link to view a sample search on this topic.

News & Events News & Events

News

Rare Disease Day at NIH 2021
March 1, 2021

GARD Answers GARD Answers

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.

Have a question? Contact a GARD Information Specialist.

References References

Baykan A. Leprechaunism. National Organization for Rare Disorders (NORD). 2012; http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/387/viewAbstract. Accessed 9/15/2014.
Capeau J. Leprechaunism. Orphanet. January 2009; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=508. Accessed 9/15/2014.
Donohue Syndrome. Online Mendelian Inheritance in Man (OMIM). February 14, 2011; http://omim.org/entry/246200. Accessed 9/15/2014.

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