Kanwal Laique, Zanobia Waseem, Syed Shariq Ullah


Spondylocostal dysplasia is a rare genetic disease. It is also known as Jarcho-Levin syndrome. It is characterized by defects in vertebrae and abnormalities of ribs. It is inherited in both autosomal dominant and recessive pattern but the latter one is more common. It is of two types: Spondylocostal dysplasia type I (SCD- I) and Spondylocostal dysplasia type II (SCD- II). The severity of disease varies among affected one. Though it is considered as less severe but respiratory compromise may pose severe threat. The diagnosis is based on clinical and radiological findings. With treatment, affected individual may survive to adult hood. 


Jarcho-Levin syndrome, Spondylocostal dysplasia (SCD) and spondylothoracic dysplasia (STD), radiology, syndrome


SCD: Spondylocostal dysplasia

STD: spondylothoracic dysplasia

Full Text:



Chandra N, Kumar S, Raj V, Vishwakarma PK, Sinha S, Saha RP. Jarcho-Levin syndrome with splenic herniation: a rare presentation. The American Journal of Case Reports. 2016;17:745.

Turnpenny PD, Young E. ICVAS (International Consortium for Vertebral Anomalies Scoliosis) In: Pagon RA, Adam MP, Ardinger HH, et al., editors. Spondylocostal Dysostosis, Autosomal Recessive. University of Washington; Seattle: pp. 1993–2016.

Berdon WE, Lampl BS, Cornier AS, et al. Clinical and radiological distinction between spondylothoracic dysostosis (Lavy-Moseley syndrome) and spondylocostal dysostosis (Jarcho-Levin syndrome). Pediatr Radiol 2011;41:384–8

Vázquez-López ME, López-Conde MI, Somoza-Rubio C, Pérez-Pacín R, Morales-Redondo R, González-Gay MA. Anomalies of vertebrae and ribs: Jarcho Levin syndrome. Description of a case and literature review. Joint Bone Spine. 2005 May 1;72(3):275-7.

Durgaprasad BK, Sharma S, Vijayalakshmi P. A case report of Jarcho–Levin syndrome. Journal of Family & Community Medicine. 2021 Jan;28(1):55.

Kulkarni ML, Sarfaraz Navaz R, Vani HN, Manjunath KS, Matani D. Jarcho-Levin syndrome. The Indian Journal of Pediatrics. 2006 Mar;73:245-7.

Banu Dane, Cem Dane, Figen Aksoy et al. Jarcho-Levin Syndrome Presenting as Neural Tube Defect: Report of Four Cases and Pitfalls of Diagnosis. Fetal Diagn Ther (2007) 22 (6): 416–419.

PARK WH, CHOI SO, LEE HJ. Jarcho-levin syndrome associated with imperforate anus and thoracoabdominal wall hernia. Journal of the Korean Surgical Society. 2007:188-90.

Hatakeyama K, Fuse S, Tomita H, et al. Jarcho–Levin syndrome associated with a complex congenital heart anomaly. Pediatr Cardiol 2003;24:86–8

Singla V, Vijayalakshmi IB, Singh B, Narsimhan C. Jarcho-Levin syndrome: a rare syndrome presented with asymptomatic cardiac murmur. BMJ Case Rep.

Onay OS, Kınık ST, Ötgün Y, Arda IS, Varan B. Jarcho-Levin syndrome presenting with diaphragmatic hernia. European journal of pediatric surgery. 2008 Aug;18(04):272-4.

Chen H. Atlas of genetic diagnosis and counseling. New Jersey: Humana Press; 2006. Jarcho-Levin Syndrome; pp. 553–57.

McCall CP, Hudgins L, Cloutier M, Greenstein RM, Cassidy SB. Jarcho‐Levin syndrome: unusual survival in a classical case. American journal of medical genetics. 1994 Feb 1;49(3):328-32.


  • There are currently no refbacks.

© Copyright PJR 2008-