leprechaunism
Donohue syndrome

It can be associated with Williams syndrome or leprechaunism.

Donohue syndrome (also known as Leprechaunism) is an extremely rare and severe genetic disorder.

Patterson syndrome is characterized by the patient's having an unusual facial look, similar to that caused by Leprechaunism.

The name leprechaunism has been largely abandoned because of the perception of the name by some parents of patients as insulting.

A few patients with homozygous mutations in the 'INSR' gene have been described, which causes Donohue syndrome or Leprechaunism.

As in leprechaunism, of which Rabson-Mendenhall syndrome represents less severe form, the condition is caused by molecular modification of both alleles of the insulin-receptor gene.

Donohue Syndrome None Leprechaunism is an extremely rare disorder characterized by abnormal resistance to insulin that results in a variety of distinguishing characteristics, including growth delays and abnormalities affecting the endocrine system (i.e., the system of glands that secrete hormones into the blood system).

Some mutations to the gene instead result in insulin resistant diabetes without Donohue syndrome.

Donohue syndrome (also known as Leprechaunism) is an extremely rare and severe genetic disorder.

Donohue syndrome is an autosomal recessive genetic disorder.

Insulin receptor mutations (Donohue Syndrome)

Facial features indicative of Donohue syndrome include protuberant and low-set ears, flaring nostrils, and thick lips.

A few patients with homozygous mutations in the 'INSR' gene have been described, which causes Donohue syndrome or Leprechaunism.

However, because spontaneous abortion (miscarriage) often results when the fetus has the disease, in actuality the proportion of children born alive with Donohue syndrome will be lower than 25%.

These include maturity onset diabetes of the young (MODY), Donohue syndrome, and Rabson-Mendenhall syndrome, among others.

The condition most commonly associated with insulin resistance is type 2 diabetes mellitus, but is also a prominent feature of obesity, polycystic ovary syndrome, Donohue syndrome, and Rabson-Mendenhall syndrome.

Many of the problems associated with Donohue syndrome may be due to the insulin receptor binding the insulin-like growth factor, regulating the growth of the embryo, in addition to its well-known role in the regulation of blood sugar.

Known mutations to the gene which can cause Donohue syndrome include a nonsense mutation that resulted in a frame shift, a single missense mutation and in the milder form mentioned above, a single codon change that altered isoleucine to methionine in the receptor protein.

Donohue Syndrome None Leprechaunism is an extremely rare disorder characterized by abnormal resistance to insulin that results in a variety of distinguishing characteristics, including growth delays and abnormalities affecting the endocrine system (i.e., the system of glands that secrete hormones into the blood system).