Lecture Notes

The first case of Schwartz-Jampel syndrome (SJS) or chondrodystrophic myotonia was explained in 1962 by Oscar Schwartz and Robert S. Jampel in siblings with myotonic myopathy and blepharophimosis.

Classification:

• Type 1A: Recognized in childhood, moderate bone dysplasia.
• Type 1B: Similar to 1A, but manifests at birth with more prominent bone dysplasia.
• Type 2: Most severe, high neonatal mortality, also known as Stuve-Wiedemann syndrome, associated with LIFR gene mutation on chromosome 5p13.

Clinical Features

• Common Characteristics:9-year-old boy with Schwartz-Jampel syndrome (Source: Basiri et al., (2015))

  • Short stature: 90%
  • Clinical myotonia: 85%
  • Puckered-small mouth: 80%
  • Muscle hypertrophy: 70%
  • Fixed facies: 55%
  • Bone abnormalities: 45%
  • Raised muscle enzymes: 45%
  • Hip dysplasias: 40%
  • Blepharophimosis and blepharospasm: 32.5%

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