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Rud syndrome

Field	Value
name	Rud syndrome
image	X-linked recessive (2).svg
caption	X-linked recessive inheritance
symptoms	RUDS

Rud syndrome is a poorly characterized disorder, probably of X-linked recessive inheritance, named after Einar Rud who described 2 patients with the case in 1927 and 1929. It was argued that all reported cases of Rud syndrome are genetically heterogeneous and significantly differ from the original case reports of Rud and that the designation Rud syndrome should be eliminated and that the patients with such diagnosis should be reassigned to other syndromes, such as Refsum disease and Sjögren-Larsson syndrome. Some consider Rud syndrome and Sjögren-Larsson syndrome the same entity and that Rud syndrome does not exist.

Presentation

While inclusion criteria for Rud syndrome have varied considerably, the major manifestations include congenital ichthyosis, hypogonadism, small stature, mental retardation, and epilepsy. Ocular findings were inconsistently reported and included strabismus, blepharoptosis, blepharospasm, glaucoma, cataract, nystagmus, and retinitis pigmentosa. Other systemic includes metabolic, bony, neurologic, and muscular abnormalities.

Eponym

In 1929, the Danish physician Einar Rud described a 22-year-old Danish male had ichthyosis, hypogonadism, short stature, epilepsy, anemia, and polyneuritis. In 1929, he described a 29-year-old female with ichthyosis, hypogonadism, partial gigantism, and diabetes mellitus.

References

"OMIM Entry - 308200 - ICHTHYOSIS AND MALE HYPOGONADISM".
"Whonamedit - dictionary of medical eponyms".
Happle, Rudolf. (January 2012). "Rud syndrome does not exist". European Journal of Dermatology.
Freedberg, et al. (2003). ''Fitzpatrick's Dermatology in General Medicine''. (6th ed.). McGraw-Hill. {{ISBN. 0-07-138076-0.
James, William; Berger, Timothy; Elston, Dirk (2005). ''Andrews' Diseases of the Skin: Clinical Dermatology''. (10th ed.). Saunders. {{ISBN. 0-7216-2921-0.
Kaufman, Lawrence M.. (1998). "A syndrome of retinitis pigmentosa, congenital ichthyosis, hypergonadotropic hypogonadism, small stature, mental retardation, cranial dysmorphism, and abnormal electroencephalogram". Ophthalmic Genetics.
Rud, E. (1927). "Et Tilfaelde af infantilisme med tetani, epilepsi, polyneuritis, ichthyosis og anaemi af perniciøs type". Hospitalstidende (Copenhagen).
Rud, E. (1929). "Et tilfaelde af hypogenitalisme (eunuchoidismus femininus) med partiel gigantisme og ichthyosis.". Hospitalstidende (Copenhagen).

Info: Wikipedia Source

This article was imported from Wikipedia and is available under the Creative Commons Attribution-ShareAlike 4.0 License. Content has been adapted to SurfDoc format. Original contributors can be found on the article history page.

genetic-disorders-with-omim-but-no-gene syndromes-affecting-the-skin syndromes-with-intellectual-disability syndromes-with-short-stature syndromes-affecting-the-eye syndromes-affecting-the-endocrine-system syndromes-with-seizures rare-diseases

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