Jarcho-Levin syndrome

A heterogeneous group of autosomal recessive axial skeletal disorders characterized by multiple segmentation defects of the VERTEBRAE (SDV), malalignment of the ribs with variable points of intercostal fusion, and often a reduction in rib number. Rib abnormalities may cause increased pressure in the THORAX, leading to diaphragmatic hernia. Mutations in the DLL3 gene have been identified. OMIM: 277300

Also Known As:

Networked: 27 relevant articles (0 outcomes, 1 trials/studies)

Disease Context: Research Results

Related Diseases

1.	Jeune syndrome
2.	Congenital Abnormalities (Deformity)
3.	Jarcho-Levin syndrome
4.	Fetal Alcohol Spectrum Disorders
5.	CHARGE Syndrome

Experts

1.	Campbell, Robert M: 3 articles (05/2015 - 12/2008)
2.	Dunwoodie, Sally L: 3 articles (03/2011 - 06/2004)
3.	Joshi, Ajeya P: 2 articles (05/2015 - 11/2014)
4.	Roth, Megan K: 2 articles (05/2015 - 11/2014)
5.	Chapman, Gavin: 2 articles (03/2011 - 01/2008)
6.	Kusumi, K: 2 articles (05/2003 - 01/2001)
7.	Cho, Kazutoshi: 1 article (11/2020)
8.	Furuse, Yuta: 1 article (11/2020)
9.	Ikeda, Masahiko: 1 article (11/2020)
10.	Onda, Tetsuo: 1 article (11/2020)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Jarcho-Levin syndrome:

1.	LigandsIBA 03/01/2011 - "Notch inhibition by the ligand DELTA-LIKE 3 defines the mechanism of abnormal vertebral segmentation in spondylocostal dysostosis." 01/01/2008 - "Notch signalling is fundamental to the formation and patterning of somites and importantly a ligand of Notch, is mutated in the abnormal vertebral segmentation syndrome spondylocostal dysostosis. " 09/12/2005 - "Mutations in the DSL (Delta, Serrate, Lag2) Notch (N) ligand Delta-like (Dll) 3 cause skeletal abnormalities in spondylocostal dysostosis, which is consistent with a critical role for N signaling during somitogenesis. " 05/01/2003 - "Novel mutations in DLL3, a somitogenesis gene encoding a ligand for the Notch signalling pathway, cause a consistent pattern of abnormal vertebral segmentation in spondylocostal dysostosis." 01/01/2001 - "Defects in the Notch pathway ligand Dll3 have been identified in the mouse pudgy (Dll3(pu)) and human spondylocostal dysostosis (SD, MIM 277300) mutations. "
2.	TitaniumIBA 01/01/2018 - "The purpose of this case report is to present the results of a hybrid vertical expandable prosthetic titanium rib (VEPTR) and magnetically controlled growing rod (MCGR) construct for the management of a patient with Jarcho-Levin syndrome. " 11/05/2014 - "Management of thoracic insufficiency syndrome in patients with Jarcho-Levin syndrome using VEPTRs (vertical expandable prosthetic titanium ribs)." 05/27/2015 - "Although surgical treatment of spondylothoracic dysplasia (STD) is controversial, we have found that an expansion thoracoplasty using a Vertical Expandable Prosthetic Titanium Rib (VEPTR; DePuy Synthes) results in favorable outcomes, including 100% survivability (at an average follow-up of 6.2 years), increased thoracic spinal length, and decreased requirements for ventilation support. " 02/14/2017 - "Combined use of Neurally Adjusted Ventilatory Assist (NAVA) and Vertical Expandable Prostethic Titanium Rib (VEPTR) in a patient with Spondylocostal dysostosis and associated bronchomalacia."
3.	Anesthetics (Anesthetic Agents)IBA 09/06/2023 - "We present the case of a patient with Jarcho-Levin Syndrome who underwent vertebral distraction surgery, with its most notable implications in anesthetic management." 09/06/2023 - "Anesthetic considerations in the perioperative management of the patient with Jarcho-Levin Syndrome." 01/01/2016 - "Anesthetic Challenges and Management in a case of Jarcho-Levin Syndrome with a Neural Tube Defect in a Newborn."
4.	Notch ReceptorsIBA 06/01/2007 - "Importantly, mutations of the Notch protein and components of its signaling pathway have been implicated in an array of human diseases (T-cell leukemia and other cancers, Multiple Sclerosis, CADASIL, Alagille Syndrome, Spondylocostal Dysostosis). "
5.	Basic Helix-Loop-Helix Transcription FactorsIBA 01/01/2023 - "Spondylocostal dysostosis 4 (SCDO4) is characterized by short stature (mainly short trunk), dyspnea, brain meningocele, and spina bifida occulta, which is caused by homozygous or compound heterozygous HES7 (HES family bHLH transcription factor 7) variants. "
6.	MetalsIBA 08/01/2005 - "In our case report and literature review, we report about a female newborn with severe asphyxiating thoracic dysplasia of the spondylocostal dysostosis classification to whom an expandable thoracoplasty with metal implants offered survival and discharge at home from newborn to infancy."
7.	Epidermal Growth Factor (EGF)IBA 03/01/2016 - "In conclusion, the structural integrity of each individual EGF repeat in the extracellular domain of DLL1 is necessary for full DLL1 activity, and certain mutations in Dll1 might contribute to spondylocostal dysostosis in humans. "
8.	Dacarbazine (DIC)FDA LinkGeneric 10/01/1997 - "Spondylocostal dysostosis associated with a 46, XX,+15,dic(6;15)(q25;q11.2) translocation."
9.	diformyl dapsone (DFD)IBA 01/01/1994 - "To confirm our hypothesis that vertebral and rib anomalies constitute a DFD, we have studied all of our cases with segmentation anomalies of the spine and ribs, including hemivertebrae, fused or absent vertebrae, and "crab-like" thorax, all of which fall into the loosely defined groups of spondylothoracic dysplasia, costovertebral dysplasia, Jarcho-Levin syndrome, and others. "
10.	N 30IBA 01/01/2008 - "These included: chromosomal abnormalities (n = 21, 30.0%); non-chromosomal syndromes (Fryns syndrome, fetal alcohol syndrome, De Lange syndrome, CHARGE syndrome, Fraser syndrome, Goldenhar syndrome, Smith-Lemli-Opitz syndrome, multiple pterygium syndrome, Noonan syndrome, and spondylocostal dysostosis); malformation sequences (laterality sequence, ectopia cordis); malformation complexes (limb body wall complex) and non syndromic multiple congenital anomalies (MCA) (n = 30, 42.9%). "

Therapies and Procedures

1.	Aftercare (After-Treatment) 12/01/2008 - "The purpose of this study is to report the mortality and life-threatening adverse events in a cohort of subjects with severe hypoplastic chest wall deformity, specifically with Jeune syndrome and Jarcho-Levin syndrome, after treatment with the VEPTR device. "
2.	Thoracoplasty 05/27/2015 - "Expansion Thoracoplasty for Thoracic Insufficiency Syndrome Associated with Jarcho-Levin Syndrome." 03/01/2009 - "The effect on pulmonary function of serial VEPTR expansion thoracoplasty was studied longitudinally in anesthetized children with spondylothoracic dysplasia using a special mobile unit. " 11/05/2014 - "Twenty-nine patients with Jarcho-Levin syndrome, subclassified as spondylocostal dysostosis (SCD) or spondylothoracic dysplasia (STD), were treated with VEPTR expansion thoracoplasty and followed for at least two years since the initial implantation. " 05/27/2015 - "Although surgical treatment of spondylothoracic dysplasia (STD) is controversial, we have found that an expansion thoracoplasty using a Vertical Expandable Prosthetic Titanium Rib (VEPTR; DePuy Synthes) results in favorable outcomes, including 100% survivability (at an average follow-up of 6.2 years), increased thoracic spinal length, and decreased requirements for ventilation support. " 08/01/2005 - "In our case report and literature review, we report about a female newborn with severe asphyxiating thoracic dysplasia of the spondylocostal dysostosis classification to whom an expandable thoracoplasty with metal implants offered survival and discharge at home from newborn to infancy."
3.	Perinatal Care 09/01/1997 - "Jarcho-Levin syndrome: prenatal diagnosis, perinatal care, and follow-up of siblings." 03/15/2013 - "A rare case of fetal spondylocostal dysostosis - prenatal diagnosis and perinatal care in a patient with multiple large leiomyomas."
4.	Interactive Ventilatory Support 02/14/2017 - "Combined use of Neurally Adjusted Ventilatory Assist (NAVA) and Vertical Expandable Prostethic Titanium Rib (VEPTR) in a patient with Spondylocostal dysostosis and associated bronchomalacia."
5.	Stents 01/01/2003 - "We describe a fatal complication of tracheal stent placement in an 18-month-old child with spondylothoracic dysplasia. " 01/01/2003 - "An 18-month-old child with spondylothoracic dysplasia who underwent tracheal stent placement for tracheomalacia. "