An autosomal recessive syndrome characterized by
anomalies of the hands, feet and, spine. Patients present with short stature
and predominantly a very short thorax. Special attention must be given to a
high incidence of odontoid hypoplasia and cervical spine instability.
Congenital Synspondylism; Vertebral Fusion with Carpal
An autosomal recessive
inheritance pattern. However, the responsible genetic marker has been
The most characteristic clinical finding is the
presence of short stature with a disproportionate short trunk (thorax). The
association of odontoid hypoplasia causing cervical spine instability and
the failure of normal segmentation of the thoracic vertebrae resulting in
fused segment of the spine (unilateral segmented bar) are characteristic of
this syndrome. This anatomical problem leads to severe scoliosis or
lordosis. The fused spine is difficult to identify in early childhood since
the ossification of the vertebrae is not complete. Most patients have a
broad and round face, cleft palate, enamel hypoplasia, sensorineural hearing
loss, preauricular skin tag, hypertelorism, cataracts, retinal pigmentation,
and narrow retinal vessels. Other clinical features include postaxial polydactyly,
decreased range of motion of elbows, and the presence of pes planus.
presence of odontoid hypoplasia and cervical spine instability requires meticulous
attention. Patients may have significant hearing loss. Severe scoliosis may affect
ventilation and positioning. There may be an increased risk of postoperative
Honeywell C, Langer L, Allanson J: Spondylocarpotarsal synostosis with
epiphyseal dysplasia. Am J Med Genet 109(4):318-322, 2002.
Seaver LH, Boyd E: Spondylocarpotarsal synostosis syndrome and cervical
Am J Med Genet 91(5):340-344, 2000.