MCID: SPN016
MIFTS: 38

Spondylocostal Dysostosis malady

Genetic diseases, Bone diseases, Rare diseases, Metabolic diseases, Fetal diseases categories

Aliases & Classifications for Spondylocostal Dysostosis

About this section

Aliases & Descriptions for Spondylocostal Dysostosis:

Name: Spondylocostal Dysostosis 10 22 23 12 24
Jarcho-Levin Syndrome 10 23 65
Spondylocostal Dysostosis, Autosomal Recessive 3 10 11
Spondylothoracic Dysostosis 10
 
Spondylothoracic Dysplasia 10
Spondylocostal Dysplasia 22
Costovertebral Dysplasia 22
Scdo 23


Classifications:



External Ids:

Disease Ontology10 DOID:0050568

Summaries for Spondylocostal Dysostosis

About this section
Genetics Home Reference:23 Spondylocostal dysostosis is a group of conditions characterized by abnormal development of bones in the spine and ribs. The bones of the spine (vertebrae) are misshapen and abnormally joined together (fused). Many people with this condition have abnormal side-to-side curvature of the spine (scoliosis) due to malformation of the vertebrae. In addition to spine abnormalities, some of the rib bones may be fused together or missing. Affected individuals have short, rigid necks and short midsections because of the bone malformations. As a result, people with spondylocostal dysostosis have short bodies but normal length arms and legs, called short-trunk dwarfism.

MalaCards based summary: Spondylocostal Dysostosis, also known as jarcho-levin syndrome, is related to dysostosis and spondylocostal dysostosis 1. An important gene associated with Spondylocostal Dysostosis is MESP2 (Mesoderm Posterior BHLH Transcription Factor 2), and among its related pathways is Neural Crest Differentiation. Affiliated tissues include vertebrae or, bone and spleen, and related mouse phenotypes are skeleton and embryogenesis.

Disease Ontology:10 A dysostosis that results in abnormal development located in vertebrae or located in ribs. the bones of the spine do not develop properly, which causes them to be misshapen and abnormally joined together.

Wikipedia:68 Spondylocostal dysostosis is a rare, heritable axial skeleton growth disorder. It is characterized by... more...

Related Diseases for Spondylocostal Dysostosis

About this section

Diseases in the Spondylocostal Dysostosis family:

Spondylocostal Dysostosis 6 Spondylocostal Dysostosis 3, Autosomal Recessive
Spondylocostal Dysostosis 2, Autosomal Recessive Spondylocostal Dysostosis 5
Spondylocostal Dysostosis 4, Autosomal Recessive Spondylocostal Dysostosis 1, Autosomal Recessive
Spondylocostal Dysostosis, Autosomal Recessive Spondylocostal Dysostosis 1
Spondylocostal Dysostosis 2 Spondylocostal Dysostosis 3
Spondylocostal Dysostosis 4 Dll3-Related Spondylocostal Dysostosis, Autosomal Recessive
Hes7-Related Spondylocostal Dysostosis, Autosomal Recessive Lfng-Related Spondylocostal Dysostosis, Autosomal Recessive
Mesp2-Related Spondylocostal Dysostosis, Autosomal Recessive Spondylocostal Dysostosis 5, Autosomal Dominant
Autosomal Dominant Spondylocostal Dysostosis

Diseases related to Spondylocostal Dysostosis via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 47)
idRelated DiseaseScoreTop Affiliating Genes
1dysostosis11.1
2spondylocostal dysostosis 110.7
3spondylocostal dysostosis 610.7
4spondylocostal dysostosis 1, autosomal recessive10.7
5spondylocostal dysostosis, autosomal recessive10.7
6spondylocostal dysostosis 2, autosomal recessive10.7
7spondylocostal dysostosis 510.7
8spondylocostal dysostosis 4, autosomal recessive10.7
9spondylocostal dysostosis 210.6
10hydrocephalus, costovertebral dysplasia, and sprengel anomaly10.6
11spondylocostal dysostosis 3, autosomal recessive10.6
12spondylocostal dysostosis 310.6
13spondylocostal dysostosis 410.6
14autosomal dominant spondylocostal dysostosis10.6
15spondylocostal dysostosis - anal and genitourinary malformations10.6
16dll3-related spondylocostal dysostosis, autosomal recessive10.5
17hes7-related spondylocostal dysostosis, autosomal recessive10.5
18lfng-related spondylocostal dysostosis, autosomal recessive10.5
19mesp2-related spondylocostal dysostosis, autosomal recessive10.5
20spondylocostal dysostosis 5, autosomal dominant10.5
21spondylocostal dysostosis - hypospadias - intellectual disability10.5
22split cord malformation10.4
23meningocele10.4
24congenital heart disease10.3
25neural tube defects10.2
26tetralogy of fallot10.2
27dextrocardia10.2
28myelomeningocele10.2
29situs inversus10.2
30cervicitis10.2
31leiomyoma10.2
32dextrocardia with situs inversus10.2
33lipomyelomeningocele10.2
34occult spinal dysraphism10.2
35tetrasomy 9p10.2
36polydactyly10.2
37trisomy 2210.2
38craniometaphyseal dysplasia10.1
39vacterl association, x-linked10.1
40mesocardia10.1
41hajdu-cheney syndrome10.0DLL3, HES7
42bone ewing's sarcoma10.0DLL3, MESP2
43scrotal carcinoma9.9DLL3, MESP2
44combined oxidative phosphorylation deficiency 49.7HES7, MESP2, TBX6
45tardbp-related amyotrophic lateral sclerosis9.7DLL3, HES7, LFNG, MESP2
46dystonia9.4DLL3, HES7, LFNG, MESP2, TBX6
47seckel syndrome8.9DLL3, HES7, LFNG, MESP2, MMAA, SCD

Graphical network of the top 20 diseases related to Spondylocostal Dysostosis:



Diseases related to spondylocostal dysostosis

Symptoms for Spondylocostal Dysostosis

About this section

Drugs & Therapeutics for Spondylocostal Dysostosis

About this section

Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Spondylocostal Dysostosis

Genetic Tests for Spondylocostal Dysostosis

About this section

Genetic tests related to Spondylocostal Dysostosis:

id Genetic test Affiliating Genes
1 Spondylocostal Dysostosis22 24 MESP2

Anatomical Context for Spondylocostal Dysostosis

About this section

MalaCards organs/tissues related to Spondylocostal Dysostosis:

33
Bone, Spleen

FMA organs/tissues related to Spondylocostal Dysostosis:

16
Vertebrae or

Animal Models for Spondylocostal Dysostosis or affiliated genes

About this section

MGI Mouse Phenotypes related to Spondylocostal Dysostosis:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053908.4DLL3, HES7, LFNG, MESP2, TBX6
2MP:00053808.1DLL3, HES7, LFNG, MESP2, TBX6
3MP:00053717.8DLL3, HES7, LFNG, MESP2, SCD, TBX6
4MP:00053787.6DLL3, HES7, LFNG, MESP2, SCD, TBX6
5MP:00107687.3DLL3, HES7, LFNG, MESP2, SCD, TBX6

Publications for Spondylocostal Dysostosis

About this section

Articles related to Spondylocostal Dysostosis:

(show top 50)    (show all 60)
idTitleAuthorsYear
1
Spondylocostal dysostosis (Jarcho-Levine syndrome) associated with occult spinal dysraphism: Report of two cases. (26167215)
2015
2
Novel ENU-Induced Mutation in Tbx6 Causes Dominant Spondylocostal Dysostosis-Like Vertebral Malformations in the Rat. (26090680)
2015
3
Correction: Novel ENU-Induced Mutation in Tbx6 Causes Dominant Spondylocostal Dysostosis-Like Vertebral Malformations in the Rat. (26222705)
2015
4
Spondylocostal dysostosis with lipomyelomeningocele: Case report and review of the literature. (25624929)
2014
5
Spondylocostal dysostosis with tetralogy of Fallot and herniation of the spleen through the diaphragm. (24666313)
2014
6
A rare case of fetal spondylocostal dysostosis - prenatal diagnosis and perinatal care in a patient with multiple large leiomyomas. (23599829)
2013
7
Mutation of HES7 in a large extended family with spondylocostal dysostosis and dextrocardia with situs inversus. (23897666)
2013
8
Autosomal dominant spondylocostal dysostosis is caused by mutation in TBX6. (23335591)
2013
9
Clinical and radiological distinction between spondylothoracic dysostosis (Lavy-Moseley syndrome) and spondylocostal dysostosis (Jarcho-Levin syndrome). (21174082)
2011
10
Notch inhibition by the ligand DELTA-LIKE 3 defines the mechanism of abnormal vertebral segmentation in spondylocostal dysostosis. (21147753)
2011
11
Autosomal dominant spondylocostal dysostosis in three generations of a Macedonian family: Negative mutation analysis of DLL3, MESP2, HES7, and LFNG. (20503311)
2010
12
Two novel missense mutations in HAIRY-AND-ENHANCER-OF-SPLIT-7 in a family with spondylocostal dysostosis. (20087400)
2010
13
Spondylocostal dysostosis associated with methylmalonic aciduria. (19371216)
2009
14
Spinal anesthesia for Cesarean delivery in a parturient with spondylocostal dysostosis. (19247767)
2009
15
Spondylocostal dysostosis associated with diaphragmatic hernia and neural tube defects. (18388793)
2008
16
Spondylocostal dysostosis in a pregnancy complicated by confined placental mosaicism for tetrasomy 9p. (18627039)
2008
17
Diffuse skull base/cervical fusion syndromes in two siblings with spondylocostal dysostosis syndrome: analysis via three dimensional computed tomography scanning. (18520929)
2008
18
Mutation of Hairy-and-Enhancer-of-Split-7 in humans causes spondylocostal dysostosis. (18775957)
2008
19
Spondylocostal dysostosis, anal and genitourinary malformations in a fetal case: a new case of Casamassima-Morton-Nance syndrome? (17056308)
2007
20
Prenatal diagnosis of spondylocostal dysostosis with 3-dimensional ultrasonography. (16567446)
2006
21
A thoracic myelomeningocele in a patient with spondylocostal dysostosis. Case report. (16509479)
2006
22
Three-dimensional ultrasound findings of spondylocostal dysostosis in the second trimester of pregnancy. (16619382)
2006
23
Spine and rib abnormalities and stature in spondylocostal dysostosis. (16582839)
2006
24
Mutation of the LUNATIC FRINGE gene in humans causes spondylocostal dysostosis with a severe vertebral phenotype. (16385447)
2006
25
Mutated MESP2 causes spondylocostal dysostosis in humans. (15122512)
2004
26
Pseudodominant inheritance of spondylocostal dysostosis type 1 caused by two familial delta-like 3 mutations. (15200511)
2004
27
Association of spondylocostal dysostosis and type I split cord malformation. (14600825)
2003
28
A cluster of autosomal recessive spondylocostal dysostosis caused by three newly identified DLL3 mutations segregating in a small village. (12791036)
2003
29
Molecular genetic prenatal diagnosis for a case of autosomal recessive spondylocostal dysostosis. (12868087)
2003
30
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. (12746394)
2003
31
Mutations in the human delta homologue, DLL3, cause axial skeletal defects in spondylocostal dysostosis. (10742114)
2000
32
Prenatal sonographic features of spondylocostal dysostosis and diaphragmatic hernia in the first trimester. (10204217)
1999
33
A case of spondylocostal dysostosis with a fra (5) (q32). (9433158)
1997
34
Spondylocostal dysostosis associated with a 46, XX,+15,dic(6;15)(q25;q11.2) translocation. (9354844)
1997
35
Monozygotic twins discordant for spondylocostal dysostosis. (7747763)
1994
36
Spondylocostal dysostosis with perinatal death and meningomyelocele. (8159620)
1994
37
Chest-wall reconstruction for spondylocostal dysostosis. (8356136)
1993
38
Spondylocostal Dysostosis, Autosomal Recessive (20301771)
1993
39
Spondylocostal dysostosis. (8200707)
1993
40
Identical twins with an autosomal recessive form of spondylocostal dysostosis. (1623623)
1992
41
Evidence for variable gene expression in a large inbred kindred with autosomal recessive spondylocostal dysostosis. (1999829)
1991
42
Spondylocostal dysostosis: dominant type. (2309760)
1990
43
Spondylocostal dysostosis: an example of autosomal dominant transmission in a large family. (2805381)
1989
44
Spondylothoracic and spondylocostal dysostosis. Hereditary forms of spinal deformity. (3339042)
1988
45
Spondylocostal dysostosis: report of three patients. (3331396)
1987
46
A new lethal chondrodysplasia with spondylocostal dysostosis, multiple internal anomalies and Dandy-Walker cyst. (3884191)
1985
47
Spondylocostal dysostosis. (6694190)
1984
48
Spondylocostal dysostosis associated with anal and urogenital anomalies in a Mennonite sibship. (7246601)
1981
49
Spondylocostal dysostosis in South African sisters. (7460377)
1981
50
Spondylocostal dysostosis and urinary tract anomaly: definition and review of an entity. (668719)
1978

Variations for Spondylocostal Dysostosis

About this section

Expression for genes affiliated with Spondylocostal Dysostosis

About this section
Search GEO for disease gene expression data for Spondylocostal Dysostosis.

Pathways for genes affiliated with Spondylocostal Dysostosis

About this section

Pathways related to Spondylocostal Dysostosis according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.4DLL3, TBX6

GO Terms for genes affiliated with Spondylocostal Dysostosis

About this section

Biological processes related to Spondylocostal Dysostosis according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1somitogenesisGO:00017569.9HES7, LFNG
2mesoderm developmentGO:00074989.8HES7, TBX6
3regulation of somitogenesisGO:00148079.7HES7, LFNG
4skeletal system developmentGO:00015019.6DLL3, HES7
5Notch signaling pathwayGO:00072198.9DLL3, HES7, LFNG, MESP2

Sources for Spondylocostal Dysostosis

About this section
2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet