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Spondylocostal Dysostosis, Autosomal Recessive.


Turnpenny PD, Young E; ICVS (International Consortium for Vertebral Anomalies and Scoliosis).


GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016.
2009 Aug 25 [updated 2013 Jan 17].



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; and 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.


The diagnosis of SCDO is based on radiologic findings. Subtypes are defined by identification of two mutated alleles in any one of the four genes in which pathogenic variants are known to cause autosomal recessive (AR) SCDO: DLL3, MESP2, LFNG, and HES7.


Treatment of manifestations: Respiratory support, including intensive care, is provided as needed for acute respiratory distress and chronic respiratory failure. Inguinal herniae are treated as per routine. Surgical intervention may be necessary when scoliosis is significant; external bracing, for example by use of an expandable prosthetic titanium rib, may be attempted but experience is limited. Prevention of secondary complications: Expert management is indicated for chronic respiratory failure, which can result in pulmonary hypertension and cardiac failure. Surveillance: Growth, development, respiratory function, and spinal curvature should be monitored. The parents/care providers of young males need to be alert for the signs of inguinal hernia and its potential complications.


AR SCDO is inherited in an autosomal recessive manner. At conception, each sib of an affected individual has a 25% chance of being affected, a 50% chance of being an asymptomatic carrier, and a 25% chance of being unaffected and not a carrier. Carrier testing for at-risk family members and prenatal testing for pregnancies at increased risk are possible if the pathogenic variants in the family are known. In experienced hands, detailed fetal ultrasound scanning is sensitive enough to detect M-SDV as early as 13 weeks’ gestation.

Copyright © 1993-2016, University of Washington, Seattle. GeneReviews is a registered trademark of the University of Washington, Seattle. All rights reserved.

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