Marinesco-Sjögren Syndrome
Background
Marinesco-Garland syndrome, Marinesco-Sjögren-Garland syndrome, Torsten Sjögren, cataract-oligophrenia, hereditary oligophrenic cerebellolental degeneration
Marinesco Sjögren Syndrome (MSS) is a rare disorder with the major features of developmental delay, muscle weakness, early onset cataracts and congenital cerebellar ataxia. Short stature and hypergonadotrophic hypogonadism (underactive sexual organs causing a lack of development at puberty) are common.
Currently over 200 cases of MSS have been reported. It occurs in all ethnic groups but is more common in isolated populations.