The Jarcho-Levin syndrome (JLS) or spondylothoracic dysostosis is a rare autosomal recessive heterogeneous disorder which can occur to variable severity. Previously the condition spondylocostal dysostosis was also considered as part of the JLS spectrum but is now considered a distinct pathological entity.
It is primarily characterized by a short neck, short trunk and a constricted thorax (narrow fetal thorax) due to multiple ribs (crab-like or fan-like radiation of the ribs) and vertebral anomalies at all levels of the vertebral column, including:
There are variously described inheritance patterns ranging from autosomal recessive to autosomal dominant.
Treatment and prognosis
The small size of the thorax in newborns frequently leads to respiratory compromise and death in infancy. Some rare variants with survival into adulthood have also been described.
- 1. Eliyahu S, Weiner E, Lahav D et-al. Early sonographic diagnosis of Jarcho-Levin syndrome: a prospective screening program in one family. Ultrasound Obstet Gynecol. 1997;9 (5): 314-8. doi:10.1046/j.1469-0705.1997.09050314.x - Pubmed citation
- 2. Hull AD, James G, Pretorius DH. Detection of Jarcho-Levin syndrome at 12 weeks' gestation by nuchal translucency screening and three-dimensional ultrasound. Prenat. Diagn. 2001;21 (5): 390-4. doi:10.1002/pd.67 - Pubmed citation
- 3. Tolmie JL, Whittle MJ, Mcnay MB et-al. Second trimester prenatal diagnosis of the Jarcho-Levin syndrome. Prenat. Diagn. 1987;7 (2): 129-34. - Pubmed citation
- 4. Lawson ME, Share J, Benacerraf B et-al. Jarcho-Levin syndrome: prenatal diagnosis, perinatal care, and follow-up of siblings. J Perinatol. 17 (5): 407-9. - Pubmed citation
- 5. Vázquez-lópez ME, López-conde MI, Somoza-rubio C et-al. Anomalies of vertebrae and ribs: Jarcho Levin syndrome. Description of a case and literature review. Joint Bone Spine. 2005;72 (3): 275-7. doi:10.1016/j.jbspin.2004.06.007 - Pubmed citation