Jarcho-Levin Syndrome

Also known as spondylocostal dysostosis, Jarcho-Levin syndrome is characterized by vertebral anomalies (hemivertebrae, fused vertebrae) and asymmetry of rib fusions.

Prenatal ultrasound shows spinal disorganization associated with abnormal chest configuration and normal lengths of long bones.

Jarcho-Levin syndrome can be differentiated from asphyxiating thoracic (Jeune) dystrophy (acromelic dwarfism with short ribs and normal spine) and thanatophoric dysplasia (rhizomelic dwarfism with short ribs and platyspondyly). In contrast to these two entities, the limbs in Jarcho-Levin syndrome are normal.

Update

More recently, Jarcho-Levin syndrome (spondylocostal dysostosis) has been differentiated from Lavy-Moseley syndrome (spondylothoracic dysostosis). These two entities have previously been confused with each other, with Lavy-Moseley syndrome suggested as a subtype of Jarcho-Levin syndrome.

Jarcho-Levin syndrome is a panethnic disorder characterized by asymmetry of rib fusions; fused, block and hemi vertebra; and a high rate of mild congenital scoliosis. The thoracic insufficiency and respiratory deficiency are less severe when compared to Lavy-Moseley syndrome, but respiratory compromise and infection remain serious concerns in affected individuals.

Jarcho-Levin syndrome usually follows an autosomal-recessive pattern of inheritance, but some families with an autosomal dominant pattern have been reported.

Lavy-Moseley syndrome, in contrast, is more commonly reported in patients with Puerto Rican ancestry and is characterized by fusion of the thoracic spine; posterior fusion of the ribs with the thoracic spine, creating a fan-like or "crab" configuration; and fusion of the entire cervical spine, with the occiput of the skull fused to C1. Mild scoliosis may uncommonly be present. In contrast to Jarcho-Levin syndrome, there is severe respiratory compromise due to the markedly shortened thorax.

The inheritance pattern of Lavy-Moseley syndrome is less well-understood.

References

Berdon WE, Lampl BS, Cornier AS, Ramirez N, Turnpenny PD, Vitale MG, Seimon LP, Cowles RA. Clinical and radiological distinction between spondylothoracic dysostosis (Lavy-Moseley syndrome) and spondylocostal dysostosis (Jarcho-Levin syndrome). Pediatr Radiol. 2011 Mar;41(3):384-8.