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GTR Home > Conditions/Phenotypes > Spondylocostal dysostosis

Spondylocostal dysostosis

Synonyms
Costovertebral dysplasia; Jarcho-Levin syndrome; Spondylothoracic dysplasia

Summary

Spondylocostal dysostosis (SCDO), defined radiographically as multiple segmentation defects of the vertebrae (M-SDV) in combination with abnormalities of the ribs, is characterized clinically by: a short trunk in proportion to height; short neck; non-progressive mild scoliosis in most affected individuals, and occasionally, more significant scoliosis. Respiratory function in neonates may be compromised by reduced size of the thorax. By age two years lung growth may improve sufficiently to support relatively normal growth and development; however, even then life-threatening complications can occur, especially pulmonary hypertension in children with severely restricted lung capacity from birth. Males with SCDO appear to be at increased risk for inguinal hernia. [from GeneReviews]

Available tests

20 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (20 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: SCDO4, bHLHb37, hHes7, HES7
    Summary: hes family bHLH transcription factor 7

  • Also known as: SCDO3, LFNG
    Summary: LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase

  • Also known as: SCDO2, bHLHc6, MESP2
    Summary: mesoderm posterior bHLH transcription factor 2

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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