spondylocostal dysostosis

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)

- autosomal recessive spondylocostal dysostosis type 2 (SCDO2)

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

- autosomal recessive spondylocostal dysostosis type 3 (SCDO3)

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

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