Table 1 Asghar-Zameer criterion for the diagnosis of JLS at birth

Major criteria

 1. Vertebral anomalies including hemivertebrae, vertebral agenesis, butterfly vertebrae, hypoplastic vertebrae, costovertebral fusion defects.

 2. Rib anomalies including malalignment, crowding, fanning-out, fusion, absence.

 3. Genetic evaluation showing mutation in MESP2, DLL3, IFNG, HES7, or PSEN1 genes.

 4. Prenatal sonographic features including costovertebral segmentation, indistinct or fused posterior ribs, irregularly shortened spine, short trunk, and short neck.

Minor criteria

 1. Child born of a consanguineous marriage.

 2. Having a sibling diagnosed with Jarcho-Lavin syndrome.

A definite diagnosis of JLS is made on the presence of two or more major criteria.

A diagnosis is probable in the presence of one major and two minor criteria.