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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.

What are the symptoms? View What are the symptoms?

Medical text written February 2007 by Contact a Family. Updated August 2007 by Dr William R. Wilcox, Medical Genetics Institute, Cedars-Sinai Medical Center, USA

 

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