SCDO1
MCID: SPN121
MIFTS: 19

Spondylocostal Dysostosis 1 (SCDO1)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Metabolic diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Spondylocostal Dysostosis 1

MalaCards integrated aliases for Spondylocostal Dysostosis 1:

Name: Spondylocostal Dysostosis 1 53
Dysostosis, Spondylocostal, Autosomal Recessive, Type 1 40
Spondylocostal Dysostosis, Autosomal Recessive, 1 13
Spondylocostal Dysostosis 1 Autosomal Recessive 53
Jarcho-Levin Syndrome 73
Scdo1 53

Classifications:



External Ids:

UMLS 73 C0265343

Summaries for Spondylocostal Dysostosis 1

MalaCards based summary : Spondylocostal Dysostosis 1, also known as dysostosis, spondylocostal, autosomal recessive, type 1, is related to spondylocostal dysostosis 1, autosomal recessive and spondylocostal dysostosis 2, autosomal recessive. An important gene associated with Spondylocostal Dysostosis 1 is DLL3 (Delta Like Canonical Notch Ligand 3). Affiliated tissues include bone and heart.

Related Diseases for Spondylocostal Dysostosis 1

Symptoms & Phenotypes for Spondylocostal Dysostosis 1

Drugs & Therapeutics for Spondylocostal Dysostosis 1

Search Clinical Trials , NIH Clinical Center for Spondylocostal Dysostosis 1

Genetic Tests for Spondylocostal Dysostosis 1

Anatomical Context for Spondylocostal Dysostosis 1

MalaCards organs/tissues related to Spondylocostal Dysostosis 1:

41
Bone, Heart

Publications for Spondylocostal Dysostosis 1

Articles related to Spondylocostal Dysostosis 1:

(show top 50) (show all 68)
# Title Authors Year
1
Spondylocostal dysostosis (Jarcho-Levin syndrome) in an adult patient with consanguineous parents, in long-term follow-up. ( 30448585 )
2018
2
Ten year follow-up of Jarcho-Levin syndrome with thoracic insufficiency treated by VEPTR and MCGR VEPTR hybrid. ( 28608177 )
2017
3
Spondylocostal Dysostosis (Jarcho Levin Syndrome). ( 29270795 )
2017
4
Lipomeningomyelocele with Fatty Filum Terminale in a Patient with Jarcho-Levin Syndrome: A Rare Association Requiring Special Attention. ( 29675085 )
2017
5
A Single-Center Experience of CNS Anomalies or Neural Tube Defects in Patients With Jarcho-Levin Syndrome. ( 26239489 )
2016
6
Jarcho-Levin Syndrome with Splenic Herniation: A Rare Presentation. ( 27739421 )
2016
7
Anesthetic Challenges and Management in a case of Jarcho-Levin Syndrome with a Neural Tube Defect in a Newborn. ( 29164846 )
2016
8
Neurosurgical management of a large meningocele in Jarcho-Levin syndrome: clinical and radiological pearls. ( 26199296 )
2015
9
Neural Tube Defects in Jarcho-Levin Syndrome: Study of Twenty-Eight Cases. ( 25792257 )
2015
10
Anaesthetic management of a patient with Jarcho-Levin syndrome. ( 26019361 )
2015
11
Jarcho-Levin syndrome with association of unilateral pulmonary hypoplasia and diastometamyelia: A case illustration. ( 26180405 )
2015
12
Anaesthesia for infant with Jarcho Levin syndrome: case report. ( 26323743 )
2015
13
Expansion Thoracoplasty for Thoracic Insufficiency Syndrome Associated with Jarcho-Levin Syndrome. ( 30473920 )
2015
14
Jarcho-Levin syndrome: a rare syndrome presented with asymptomatic cardiac murmur. ( 24526200 )
2014
15
Lethal progressive thoracic insufficiency in a neonate due to jarcho levin syndrome. ( 24741543 )
2014
16
Management of thoracic insufficiency syndrome in patients with Jarcho-Levin syndrome using VEPTRs (vertical expandable prosthetic titanium ribs). ( 25378514 )
2014
17
Sporadic occurrence of jarcho-levin syndrome in an ivorian newborn. ( 24106627 )
2013
18
Jarcho-Levin syndrome presenting with severe hydrocephalus: a report of three cases. ( 24551977 )
2013
19
The outcome of Jarcho-Levin syndrome treated with a functional latissimus dorsi flap - A series of three cases. ( 22754151 )
2012
20
Jarcho-Levin syndrome with diastematomyelia: A case report and review of literature. ( 22408667 )
2011
21
Clinical and radiological distinction between spondylothoracic dysostosis (Lavy-Moseley syndrome) and spondylocostal dysostosis (Jarcho-Levin syndrome). ( 21174082 )
2011
22
[Jarcho-Levin syndrome associated with maternal hypothyroidism]. ( 22185858 )
2011
23
Prenatal diagnosis of Jarcho-Levin syndrome in combination with inguinoscrotal hernia. ( 19634089 )
2010
24
A case of Jarcho-Levin syndrome associated with bilateral cystic renal disease and wilms tumor: MR imaging findings. ( 19863205 )
2009
25
Mutations in the MESP2 gene cause spondylothoracic dysostosis/Jarcho- Levin syndrome. ( 18485326 )
2008
26
Jarcho-Levin syndrome presenting with diaphragmatic hernia. ( 18629769 )
2008
27
Prenatal diagnosis of Jarcho-Levin syndrome in the first trimester. ( 17159351 )
2007
28
Jarcho-Levin syndrome presenting as neural tube defect: report of four cases and pitfalls of diagnosis. ( 17652927 )
2007
29
Jarcho-Levin syndrome. ( 16567923 )
2006
30
Ultrasonographic diagnosis of Jarcho-Levin syndrome at 20 weeks' gestation in a fetus without previous family history. ( 15692209 )
2005
31
Anomalies of vertebrae and ribs: Jarcho Levin syndrome. Description of a case and literature review. ( 15851003 )
2005
32
Pulmonary hypoplasia in Jarcho-Levin syndrome. ( 15125221 )
2004
33
Jarcho-Levin syndrome: a case study. ( 15490911 )
2004
34
Aberrant Pax1 and Pax9 expression in Jarcho-Levin syndrome: report of two Caucasian siblings and literature review. ( 12833407 )
2003
35
Jarcho-levin syndrome associated with a complex congenital heart anomaly. ( 12574986 )
2003
36
Case report: a prenatal case of Jarcho-Levin syndrome diagnosed during the first trimester of pregnancy. ( 12575026 )
2003
37
Controversies surrounding Jarcho-Levin syndrome. ( 14631208 )
2003
38
Pulmonary hypertension in Jarcho-Levin syndrome. ( 11807909 )
2002
39
Jarcho-Levin syndrome. ( 12053050 )
2002
40
Detection of Jarcho-Levin syndrome at 12 weeks' gestation by nuchal translucency screening and three-dimensional ultrasound. ( 11360281 )
2001
41
Extraskeletical malformations in the Jarcho-Levin syndrome: postmortem study of three cases. ( 11486350 )
2001
42
Jarcho-Levin syndrome: report on a long-term follow-up of an untreated patient. ( 10218183 )
1999
43
Jarcho-Levin syndrome: two consecutive pregnancies in a Puerto Rican couple. ( 9697288 )
1998
44
Early sonographic diagnosis of Jarcho-Levin syndrome: a prospective screening program in one family. ( 9201874 )
1997
45
Jarcho-Levin syndrome: prenatal diagnosis, perinatal care, and follow-up of siblings. ( 9373850 )
1997
46
Jarcho-Levin syndrome associated with atrial septal defect and partial anomalous pulmonary venous return: a case report. ( 9395950 )
1997
47
Recurrence of spondylothoracic dysplasia (Jarcho-Levin syndrome) in a family. ( 9404912 )
1997
48
Jarcho-Levin syndrome: a new case report with unusual unexplained aortic root dilatation. ( 9419932 )
1997
49
The Jarcho-Levin syndrome (spondylocostal dysplasia) and complex congenital heart disease: a case report. ( 8723567 )
1996
50
Progressive kyphosis and neurologic compromise complicating spondylothoracic dysplasia in infancy (Jarcho-Levin syndrome). ( 8560346 )
1995

Variations for Spondylocostal Dysostosis 1

Expression for Spondylocostal Dysostosis 1

Search GEO for disease gene expression data for Spondylocostal Dysostosis 1.

Pathways for Spondylocostal Dysostosis 1

GO Terms for Spondylocostal Dysostosis 1

Sources for Spondylocostal Dysostosis 1

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62 PubMed
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69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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