Donohue Syndrome (also known as Leprechaunism) is an extremely rare medical condition. It derives its name from the fact that those afflicted with the disease often have elfin features and are smaller than usual. Facial features indicative of Leprechaunism include protuberant and low-set ears, flaring nostrils, and thick lips. Physical features include enlarged breasts and clitorises in females and enlarged penises in males, as well as severe growth retardation. Sufferers are resistant to insulin. Early death is usual. A pierced human ear. ... A nostril is one of the two channels of the nose, from the point where they bifurcate to the external opening. ... The mouth, also known as the buccal cavity or the oral cavity, is the opening through which an animal or human takes in food. ... A pregnant womans breasts. ... The clitori (Greek ) is a sexual organ. ... The penis (plural penises, penes) is an external male sexual organ. ... Insulin resistance is the condition in which normal amounts of insulin are inadequate to produce a normal insulin response from fat, muscle and liver cells. ... Insulin (from Latin insula, island, as it is produced in the Islets of Langerhans in the pancreas) is a polypeptide hormone that regulates carbohydrate metabolism. ...

Leprechaunism is an autosomal recessive genetic disorder. The mutations responsible for Leprechaunism are found on the short arm chromosome 19 (19p13.2) within the coding sequence of the INSR gene (insulin receptor) causing the production of inactive receptor molecules. An autosome is a non-sex chromosome. ... In genetics, the term recessive gene refers to an allele that causes a phenotype (visible or detectable characteristic) that is only seen in a homozygous genotype (an organism that has two copies of the same allele). ... A genetic disorder or a clinical phenotype. ... Figure 1: A representation of a condensed eukaryotic chromosome, as seen during cell division. ... In molecular biology, the insulin receptor is a transmembrane receptor that is activated by insulin. ...

Leprechaunism was first identified in 1948 by Dr. W.L. Donohue. It has since been spotted in a girl named Andrea Cooper from Atlanta, Georgia in 2007. In this case, nostrils tend to flare involuntarily whilst talking and especially laughing. This is a cause of frustration for Cooper because friends will often attempt to provoke laughter so as to see the hot flaring action. 1948 (MCMXLVIII) was a leap year starting on Thursday (the link is to a full 1948 calendar). ...

See also

• Patterson pseudoleprechaunism syndrome
• Williams syndrome.

Patterson syndrome, also called pseudoleprechaunism, is an extremely rare syndrome, first mistaken as Donohue Syndrome (also known as Leprechaunism). ... Williams syndrome (also Williams-Beuren syndrome, sometimes called Pixieism) is a rare genetic disorder, occurring in fewer than 1 in 7,500 live births. ...

References

External links

• Mendelian Inheritance in Man (OMIM) 246200