Spondylocarpotarsal synostosis syndrome (with or without unilateral unsegmented bar)

Am J Med Genet. 1994 May 15;51(1):1-8. doi: 10.1002/ajmg.1320510102.

Abstract

Spondylocarpotarsal synostosis syndrome is characterized by autosomal recessive inheritance, failure of normal spinal segmentation causing symmetrical block vertebrae or scoliosis, and lordosis. There is a disproportionately short trunk. Some patients have a unilateral unsegmented bar. Other skeletal changes include carpal synostosis, usually capitate-hamate and lunate-triquetrum. Tarsal synostoses were present in patients in whom the feet were radiographed. Stature is short. The feet are flat. Cleft palate and sensorineural or mixed hearing loss are variable manifestations. We have reviewed the literature and present 6 new patients, 2 of them sibs.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Abnormalities, Multiple*
  • Adult
  • Child
  • Child, Preschool
  • Dwarfism / congenital
  • Female
  • Foot Deformities, Congenital*
  • Genes, Recessive
  • Hand Deformities, Congenital*
  • Hearing Loss, Sensorineural / congenital
  • Humans
  • Male
  • Radiography
  • Scoliosis / congenital*
  • Scoliosis / diagnostic imaging
  • Syndrome
  • Synostosis*