leprechaunism


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Related to leprechaunism: Prader Willi syndrome

leprechaunism

 [lep´rĕ-kon″izm]
a lethal familial congenital condition in which the infant is small and has an elfin face and severe endocrine disorders, such as enlargement of the clitoris in a female or of the penis in a male.

lep·re·chaun·ism

(lep'rĕ-kawn-izm), [MIM*246200]
A congenital form of dwarfism characterized by extreme growth retardation, endocrine disorders, and emaciation, with elfin facies and large, low-set ears; autosomal recessive inheritance; caused by mutation in the insulin receptor gene (INSR) on 19p.
[Irish leprechaun, elf]

leprechaunism

(lĕp′rĭ-kŏn′ĭz′əm)
An autosomal recessive [MIM 246200] polydysmorphic condition with parental consanguinity, which is more common in females—the male foetuses die in utero

leprechaunism

Donohue syndrome, Donohue-Uchida syndrome, dysendocrinism
An AR polydysmorphic complex with parental consanguinity, which is more common in ♀–↑ ♂ fetal wastage in utero and characterized by a coarse gnome-like face with a saddle nose, broad mouth, large, low-set ears, hirsutism, cutis laxa, atrophy of subcutaneous fat, dwarfism, extreme wasting, mental retardation, dysphagia, enlarged nipples, breasts, clitoris, penis, kidneys, pancreatic islets and ovaries–with premature follicular maturation, hepatic nodules, insulin receptor dysfunction, early death. Cf Williams syndrome.

lep·re·chaun·ism

(lep'rĕ-kawn-izm)
Congenital dwarfism characterized by extreme growth retardation, endocrine disorders, and emaciation, with elfin facies and large, low-set ears.
[Irish leprechaun, elf]

leprechaun,

Irish mythological figure, usually depicted as dwarflike and somewhat distorted.
leprechaunism - congenital condition characterized by insulin resistance and growth retardation.
References in periodicals archive ?
Homozygous deletion of the human insulin receptor gene results in leprechaunism. Nat Genet 1993;5:71-73.
Psiachou et al., "Homozygosity for a null allele of the insulin receptor gene in a patient with leprechaunism," Human Mutation, vol.
A syndrome of insulin resistance resembling Leprechaunism in five sibs of consanguineous parents.
Mutations in INSR lead to a wide spectrum of insulin resistance syndromes ranging from leprechaunism to type A insulin resistance.