Cataracts, motor system disorder, short stature, learning difficulties, and skeletal abnormalities: a new syndrome?

Am J Med Genet. 1996 Mar 1;62(1):42-7. doi: 10.1002/(SICI)1096-8628(19960301)62:1<42::AID-AJMG9>3.0.CO;2-Y.


We present a 4-generation family in which affected individuals have cataracts, a motor neuronopathy with upper motor neuron signs, short stature, developmental delay, and skeletal abnormalities. An additional symptom is weakness during pregnancy which resolves after delivery. The condition is inherited in an autosomal dominant manner. The manifestations and inheritance are not found in any previously described conditions. We consider that this is a new syndrome.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Adolescent
  • Adult
  • Cataract* / genetics
  • Child
  • Child, Preschool
  • Dwarfism* / genetics
  • Female
  • Follow-Up Studies
  • Genes, Dominant
  • Humans
  • Learning Disabilities* / genetics
  • Male
  • Middle Aged
  • Pedigree
  • Psychomotor Disorders*
  • Syndrome