Marinesco-Sjögren syndrome

(redirected from Sjögren II syndrome)

Ma·ri·nes·co-Gar·land syn·drome

(mah-rē-nes'kō gar'lănd), [MIM*248800]
a rare neurologic disorder characterized by cerebellar ataxia, congenital cataracts, and growth and mental retardation; autosomal recessive inheritance.

Marinesco-Sjögren syndrome

[mārēnes′kōshur′gren]
Etymology: Georges Marinesco, Romanian neurologist, 1863-1938; Karl Gustav Torsten Sjögren, Swedish physician, 1896-1974
a hereditary syndrome transmitted as an autosomal-recessive trait, consisting of cerebellar ataxia; mental and somatic growth retardation; congenital cataracts; inability to chew; thin brittle fingernails; and sparse, incompletely keratinized hair.

Marinesco-Sjögren syndrome

An autosomal recessive condition (OMIM:248800) characterised by congenital cataracts, cerebellar ataxia, progressive muscle weakness due to myopathy with marked muscle replacement by fat and connective tissue, and delayed psychomotor development; variably accompanied by short stature, hypergonadotrophic hypogonadism, and skeletal deformities due to muscle weakness.

Molecular pathology
Defects of SIL1, which encodes a glycoprotein required for protein translocation and folding in the endoplasmic reticulum, cause Marinesco-Sjögren syndrome.

Garland,

Hugh G., English neurologist. 1903-1967.
Bland-White-Garland syndrome - see under Bland
Marinesco-Sjögren-Garland syndrome - see under Marinesco
Garland-Moorhouse syndrome - Synonym(s): Marinesco-Sjögren syndrome

Marinesco,

Georges, Romanian neurologist, 1863-1938.
Marinesco-Radovici reflex - Synonym(s): Radovici sign
Marinesco-Sjögren-Garland syndrome - a rare neurologic disorder characterized by cerebellolental degeneration with mental retardation. Synonym(s): cataract-oligophrenia syndrome; Torsten Sjögren syndrome
Marinesco-Sjögren syndrome - development and mental retardation. Synonym(s): Garland-Moorhouse syndrome; hereditary oligophrenic cerebellolental degeneration; oligophrenic cerebellolenticular degeneration; Sjögren syndrome; Torsten syndrome
Marinesco succulent hand - edema of the hand with coldness and lividity of the skin, observed in syringomyelia. Synonym(s): main succulente

Sjögren,

Karl Gustaf Torsten, Swedish physician, 1859-1939.
Marinesco-Sjögren-Garland syndrome - see under Marinesco
Marinesco-Sjögren syndrome - see under Marinesco
Sjögren syndrome - Synonym(s): Marinesco-Sjögren syndrome
Sjögren-Larsson syndrome - congenital ichthyosis in association with oligophrenia and spastic paraplegia.
Torsten Sjögren syndrome - Synonym(s): Marinesco-Sjögren-Garland syndrome
Torsten syndrome - Synonym(s): Marinesco-Sjögren syndrome