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spondylocostal dysostosis

Tuesday 8 May 2007

Spondylocostal dysostosis is a congenital disorder characterized by multiple malformations of the vertebrae and ribs.

Spondylocostal dysostosis encompasses a spectrum of vertebral abnormalities ranging from spina bifida occulta to large meningomyelocele and from mild to severe thoracic deformities that produce pulmonary hypoplasia and respiratory insufficiency.

Synopsis

- thoracic scoliosis
- vertebral malformations
- costal malformations
- very short trunk
- disproportionately long extremities
- mild prognathism
- low-set ears
- hemivertebrae
- block vertebrae
- severe thoracic lordosis
- absent sacrum
- posterior fusion of some ribs with greater distance among them in the anterior thorax
- relatively long extremities

Associations

- left-sided diaphragmatic hernia (#10204217#)
- thoracolumbar meningomyelocele (#8159620#)
- imperforate anus (#8159620#)
- severe pulmonary hypoplasia (#8159620#)
- perinatal death (#8159620#)

Types

- autosomal recessive spondylocostal dysostosis type 1 (SCDO1)

  • 19q13: mutation in the DLL3 gene (MIM.602768)

- autosomal recessive spondylocostal dysostosis type 2 (SCDO2)

  • 15q26.1: mutations in the MESP2 gene (MIM.605195)

- autosomal recessive spondylocostal dysostosis type 3 (SCDO3)

  • 7p22: mutations in the LFNG gene (MIM.602576)

These three genes are important components of the Notch signaling pathway.