GTR Home > Conditions/Phenotypes > Marinesco-Sjögren syndrome

Disease characteristics

Excerpted from the GeneReview: Marinesco-Sjögren Syndrome
Marinesco-Sjögren syndrome (MSS) is characterized by cerebellar ataxia with cerebellar atrophy, early-onset (not necessarily congenital) cataracts, mild to severe intellectual disability, hypotonia, and muscle weakness. Additional features are short stature and various skeletal abnormalities including scoliosis. Children with MSS usually present with muscular hypotonia in early infancy; distal and proximal muscular weakness is noticed during the first decade of life. Later, cerebellar findings of truncal ataxia, dysdiadochokinesia, and dysarthria become apparent. Motor function worsens progressively for some years, then stabilizes at an unpredictable age and degree of severity. Cataracts can develop rapidly and typically require lens extraction in the first decade of life. Although many adults are severely handicapped, life span in MSS appears to be near normal.

Associated genes

Clinical features

  • Muscle weakness
  • Hypertonia
  • Coxa valga
  • Progressive muscle weakness
  • Short stature
  • Abnormality of the genital system
  • Dysarthria
  • Congenital cataract
  • Intellectual disability
  • Short metatarsal
  • Kyphosis
  • Microcephaly
  • Cognitive impairment
  • Amyotrophy
  • Incoordination
  • Cataract
  • Nystagmus
  • Strabismus
  • Failure to thrive
  • Optic atrophy
  • Pectus carinatum
  • Hypergonadotropic hypogonadism
  • Brachydactyly syndrome
  • Abnormality of the metacarpal bones
  • Muscular hypotonia
  • Spasticity
  • Global developmental delay
  • Reduced tendon reflexes
  • Flexion contracture
  • Pes planus
  • Talipes
  • Gait ataxia
  • Limb ataxia
  • Neurological speech impairment
  • Scoliosis
  • Cubitus valgus
  • Myopathy
  • Elevated serum creatine phosphokinase
  • Abnormality of the hip bone
  • Centrally nucleated skeletal muscle fibers
  • Aplasia/Hypoplasia of the cerebellum
  • Cerebellar cortical atrophy
  • Peripheral neuropathy
  • Short metacarpal
  • Abnormality of movement
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