spondylocostal dysostosis 3

A spondylocostal dysostosis that has_material_basis_in homozygous or compound heterozygous mutation in the LFNG gene on chromosome 7p22.3.

Signs and symptoms

• Vertebral segmentation defect
• Supernumerary vertebral ossification centers
• Scoliosis
• Short stature
• Contracture of the proximal interphalangeal joint of the 2nd finger
• Slender finger
• Hypoplasia of the odontoid process
• Rib fusion
• Kyphosis

Also known as: SCDO3; autosomal recessive spondylocostal dysostosis 3