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 Coalition Syndrome.
More than 25 cases have been reported
Mutations in filamin B (FLNB) gene on 3p14.3 are responsible. FLNB is integral in vertebral segmentation, joint formation, and endochondral ossification.
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 characteristics 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.
The presence of odontoid hypoplasia or aplasia 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 respiratory complications.
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E: Spondylocarpotarsal synostosis syndrome and cervical instability. Am J Med Genet