Schwartz-Jampel syndrome (Oscar Schwartz)

A syndrome characterised by growth retardation, peculiar facies, skeletal anomalies, and myotonia. Muscles become increasingly stiff and may be hypertrophies as well as myotonic. Skeletal and articular disorders consist chiefly of limitation of motion of the hips, wrist, toes, and spine, short vertebrae with brevicollis, fragmentation and flattening of femoral epiphyses, pectus carinatum, acetabular dysplasia, and coxa vara. Because of stoff hips, the gait becomes waddling and progressively difficult. The face has a normal appearance at birth, but develops into a masklike facies with puckered lips, eyes upward slanting, blepharophimosis, and ptosis of the eyelids because of tonic contractions of the facial muscles. Hypoplastic facial bones. Associated defects include a high-pitched voice, low hairline, low-set small ears, small testes, high-arched palate, and occasiona pes euinovarus. Onset within first month of life with choking on cold fluids and mave have hip dislocation. Probably autosomal recessive inheritance. One author says dominant.

We thank Andrey Azov for information submitted.

• L. M. Pinto, J. S. De Sousa:
  Un caso de "doenca muscular" de difficil classificacao.
  Revista portuguesa de pediatria e puericultura, 1961, 6: 1.
• O. Schwartz, R. S. Jampel:
  Congenital blepharophimosis associated with a unique generalized myopathy.
  Archives of Ophthalmology, Chicago, 1962, 68: 52.
• D. C. Aberfeld, L. V. Hinterbuchner, M. Schneider:
  Myotonia, dwarfism, diffuse bone disease and unusual ocular and facial abnormalities (a new syndrome).
  Brain, Oxford, 1965, 88: 313-322.
• D. C. Aberfeld et al:
  Chondrodystrophic myotonia: Report of two cases. Myotonia, dwarfism, diffuse bone disease and unusual ocular and facial abnormalities.
  Annals of Neurology. Boston, 1970, 22: 455-62
• D. Aberfeld:
  Chondrodystrophic myotonia versus Schwartz-Jampel syndrome. (Letter).
  Annals of Neurology, Boston, 1979, 5: 210.