English Version
U. Hariharan, M. Garg, R. Sakhya, A. Kanojia

Jarcho-Levin syndrome

Jarcho-Levin syndrome

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Keywords Jarcho-Levin syndrome; ICD 10: Q76; Synonyms: Spondylocostal dysostosis
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Jarcho-Levin syndrome (JLS) is an inherited costovertebral dysplasia. It is inherited in both an autosomal and a recessive pattern [1].

Saul Jarcho and Paul M Levin first described this disorder in 1938 [2]. Global incidence of JLS is 1/40,000 births which makes it a rare genetic disorder [1]. It is related to the SSRT/ARS2 (Serrate RNA effector molecule homolog or arsenite-resistance protein 2 gene. It is caused by a mutation in DLL3 gene mapped on 19q13 sequence [3]. The intelligence levels (IQ) remained normal in all reported cases. Its exact incidence in the Asian continent is unknown, but a few cases of JLS have been reported in India [4]. JLS has two phenotypes: Spondylothoracic dysplasia (STD), which is autosomal recessive and Spondylocostal dysplasia/dysostosis (SCD), which is autosomal dominant, both being associated with multiple other anomalies. Both types are due to a failure of vertebral segmentation. Infants usually present with vertebral and rib anomalies along with a plethora of non-skeletal abnormalities including hydrocephalus, neural tube defects, tracheal abnormalities, cardiac, renal, gastrointestinal and urinary tract abnormalities [4,5].
Axial skeleton growth defects manifest in the form of vertebral column malformations, intrinsic rib anomalies, small thoracic cavity, short stature, scoliosis and kyphosis, leading to a protuberant abdomen and severe pulmonary complications [6].
Respiratory insufficiency, pulmonary hypertension and other multisystem anomalies are the major causes of mortality in these patients.