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
Abnormal facial shape	Unusual facial appearance	0001999
Cachexia	Wasting syndrome	0004326
Cognitive impairment	Abnormality of cognition Cognitive abnormality Cognitive defects Cognitive deficits Intellectual impairment Mental impairment [ more ]	0100543
Feeding difficulties in infancy		0008872
Hearing abnormality	Abnormal hearing	0000364
High, narrow palate	Narrow, high-arched roof of mouth Narrow, highly arched roof of mouth [ more ]	0002705
Hyperinsulinemia		0000842
Hypertelorism	Wide-set eyes Widely spaced eyes [ more ]	0000316
Hypoglycemia	Low blood sugar	0001943
Intrauterine growth retardation	Prenatal growth deficiency Prenatal growth retardation [ more ]	0001511
Long penis	Enlarged penis	0000040
Low-set, posteriorly rotated ears		0000368
Macrotia	Large ears	0000400
Proptosis	Bulging eye Eyeballs bulging out Prominent eyes Prominent globes Protruding eyes [ more ]	0000520
Severe failure to thrive	Severe faltering weight Severe weight faltering [ more ]	0001525
Short stature	Decreased body height Small stature [ more ]	0004322
Skeletal muscle atrophy	Muscle degeneration Muscle wasting [ more ]	0003202
Thick lower lip vermilion	Increased volume of lower lip Plump lower lip Prominent lower lip [ more ]	0000179
Thick nasal alae		0009928
Thickened nuchal skin fold	Thickened skin folds of neck Thickened skin over the neck [ more ]	0000474
Type II diabetes mellitus	Noninsulin-dependent diabetes Type 2 diabetes Type II diabetes [ more ]	0005978
30%-79% of people have these symptoms
Cholestasis	Slowed or blocked flow of bile from liver	0001396
Delayed skeletal maturation	Delayed bone maturation Delayed skeletal development [ more ]	0002750
Depressed nasal bridge	Depressed bridge of nose Flat bridge of nose Flat nasal bridge Flat, nasal bridge Flattened nasal bridge Low nasal bridge Low nasal root [ more ]	0005280
Female pseudohermaphroditism		0010458
Generalized hirsutism	Excessive hairiness over body	0002230
Gynecomastia	Enlarged male breast	0000771
Hepatic fibrosis		0001395
Inguinal hernia		0000023
Lipoatrophy	Loss of fat tissue in localized area	0100578
Prominent nipples		0004405
Recurrent respiratory infections	Frequent respiratory infections Multiple respiratory infections respiratory infections, recurrent Susceptibility to respiratory infections [ more ]	0002205
Umbilical hernia		0001537
5%-29% of people have these symptoms
Asymmetry of the breasts		0010312
Cryptorchidism	Undescended testes Undescended testis [ more ]	0000028
Microcephaly	Abnormally small skull Decreased circumference of cranium Decreased size of skull Reduced head circumference Small head circumference [ more ]	0000252
Percent of people who have these symptoms is not available through HPO
Abdominal distention	Abdominal bloating Abdominal swelling Belly bloating Bloating [ more ]	0003270
Abnormality of the abdominal wall		0004298
Acanthosis nigricans	Darkened and thickened skin	0000956
Adipose tissue loss	Loss of fat tissue	0008887
Autosomal recessive inheritance		0000007
Clitoral hypertrophy	Enlarged clitoris	0008665
Elfin facies	Elf-like facial appearance Elf-like facial features [ more ]	0004428
Fasting hypoglycemia	Low blood sugar when fasting	0003162
Gingival overgrowth	Gum enlargement	0000212
Hyperglycemia	High blood sugar	0003074
Hyperkeratosis		0000962
Hypermelanotic macule	Hyperpigmented spots	0001034
Hypertrichosis		0000998
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
Nail dysplasia	Atypical nail growth	0002164
Ovarian cyst		0000138
Pancreatic islet-cell hyperplasia		0004510
Postnatal growth retardation	Growth delay as children	0008897
Postprandial hyperglycemia		0011998
Precocious puberty	Early onset of puberty Early puberty [ more ]	0000826
Recurrent infections	Frequent infections Frequent, severe infections Increased frequency of infection infections, recurrent Predisposition to infections Susceptibility to infection [ more ]	0002719
Small face	Short and narrow face Small facies [ more ]	0000274
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: 12/1/2018

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 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
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.

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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