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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

Spondylocarpotarsal synostosis syndrome and cervical instability.

Spondylocarpotarsal synostosis syndrome is a recently delineated autosomal recessive condition comprising short stature with short trunk, failure of normal spine segmentation resulting in block vertebrae and fusion of posterior elements, carpal and/or tarsal coalition, scoliosis, lordosis, pes planus, dental enamel hypoplasia, decreased range of motion or dislocation of the elbow, renal anomalies, and hearing loss. The vertebral segmentation defects may involve noncontiguous areas of the cervical, thoracic, and lumbar spine. Odontoid hypoplasia was noted in two cases. We report on a sporadic case of spondylocarpotarsal synostosis in a 5-year-old girl with hypoplasia of C1 and odontoid and subluxation of C2 upon C3. This brings the number of well-documented cases of spondylocar- potarsal synostosis to 19, and is the first documenting cervical spine instability. Careful evaluation for this complication should be considered in other cases.[1]


  1. Spondylocarpotarsal synostosis syndrome and cervical instability. Seaver, L.H., Boyd, E. Am. J. Med. Genet. (2000) [Pubmed]
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