leprechaunism /lep·re·chaun·ism/ (lep´rĕ-kon″izm) a lethal familial congenital condition in which the infant is small and has elfin facies and severe endocrine disorders, as indicated by enlarged clitoris and breasts.
leprechaunism
leprechaunism [lep´rĕ-kon″izm]
leprechaunism
lep·re·chaun·ism (l p r -k n z m)n. A rare genetic disorder characterized by mental and physical retardation, emaciation, endocrine disorders, hirsutism, and facial features dominated by large wide-set eyes and large low-set ears. |
leprechaunism
[lep′rəkän′izəm]
a rare lethal familial condition marked by slow physical and mental development, the elfin facies suggested by the name (wide-set eyes, low-set ears, and hirsutism), and severe endocrine disorders, such as enlargement of the clitoris and breasts in females and of the phallus in males. Also called Donohue's syndrome.
Leprechaunism
An autosomal recessive [MIM 246200] polydysmorphic condition with parental consanguinity, which is more common in females—the male foetuses die in utero
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.
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.
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.
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