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Spondylothoracic Dysostosis.


Cornier AS.


GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2014.
2010 Aug 05.



Spondylothoracic dysostosis (STD) (known as Jarcho-Levin syndrome when it occurs in Puerto Ricans of Spanish descent) is characterized by a short and rigid neck, short thorax, protuberant abdomen, and inguinal and umbilical hernias. Abnormal vertebral segmentation and posterior rib fusion can result in significant thoracic restriction and respiratory insufficiency. Poor growth of the spine results in a short trunk and hence short stature. Scoliosis is not common, but when present can be severe.


Diagnosis relies on distinctive radiographic findings including abnormal segmentation of all vertebral segments, severe shortening of the spine, especially the thoracic spine, and rib fusions. MESP2 is the only gene known to be associated with spondylothoracic dysostosis.


Treatment of manifestations: symptomatic treatment of respiratory distress in neonates, often with surfactant factor, CPAP (constant positive air pressure) for hypercapnea, and continuous drip (rather than bolus) feedings. Endotracheal intubation and mechanical ventilation should be avoided and, when necessary, ventilator pressures should be set as low as possible and discontinued as soon as possible. In older children, aggressive treatment of upper respiratory tract diseases, immunization against RSV, and therapy with bronchodilators as needed. Physical and occupational therapies may help support development progress. Surgical intervention as needed for scoliosis and inguinal hernias. Surveillance: Growth, development, respiratory function, and spinal curvature should be monitored. Young males need to be monitored for the signs of inguinal hernias and their complications.


Spondylothoracic dysostosis (STD) 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 disease-causing mutations have been identified in the family. Prenatal ultrasound examination can be performed early in the second trimester to identify multiple vertebral segmentation defects and rib fusions.

Copyright © 1993-2014, University of Washington, Seattle. All rights reserved.

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