MCID: SPN016
MIFTS: 40

Spondylocostal Dysostosis malady

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

Aliases & Classifications for Spondylocostal Dysostosis

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Aliases & Descriptions for Spondylocostal Dysostosis:

Name: Spondylocostal Dysostosis 10 45 22 23 12
Jarcho-Levin Syndrome 10 23 65
Spondylocostal Dysostosis, Autosomal Recessive 3 10 11
Costovertebral Dysplasia 45 22
 
Scdo 45 23
Spondylothoracic Dysostosis 10
Spondylothoracic Dysplasia 10
Spondylocostal Dysplasia 22

Classifications:



External Ids:

Disease Ontology10 DOID:0050568
UMLS65 C0265343

Summaries for Spondylocostal Dysostosis

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NIH Rare Diseases:45 Spondylocostal dysostosis is a group of conditions characterized by abnormal development of the bones in the spine and ribs. in the spine, the vertebrae are misshapen and fused. many people with this condition have an abnormal side-to-side curvature of the spine (scoliosis). the ribs may be fused together or missing. these bone malformations lead to short, rigid necks and short midsections. infants with spondylocostal dysostosis have small, narrow chests that cannot fully expand. this can lead to life-threatening breathing problems. males with this condition are at an increased risk for inguinal hernia, where the diaphragm is pushed down, causing the abdomen to bulge out. there are several types of spondylocostal dysostosis. these types have similar features and are distinguished by their genetic cause and how they are inherited, autosomal recessive or autosomal dominant . some of the autosomal recessive types of spondylocostal dysostosis are called "jarcho-levin syndrome", a term that is more often used as a synonym for a similar condition known as "spondylothoracic dysostosis". treatment is symptomatic and supportive and may include respiratory support and surgery to correct inguinal hernia and scoliosis. last updated: 4/22/2016

MalaCards based summary: Spondylocostal Dysostosis, also known as jarcho-levin syndrome, is related to spondylocostal dysostosis 5 and spondylocostal dysostosis 4, autosomal recessive. 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 endothelial, and related mouse phenotypes are embryo and limbs/digits/tail.

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.

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.

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

Related Diseases for Spondylocostal Dysostosis

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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 Ripply2-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 38)
idRelated DiseaseScoreTop Affiliating Genes
1spondylocostal dysostosis 512.3
2spondylocostal dysostosis 4, autosomal recessive12.3
3spondylocostal dysostosis, autosomal recessive12.3
4spondylocostal dysostosis 612.3
5spondylocostal dysostosis 2, autosomal recessive12.3
6spondylocostal dysostosis 1, autosomal recessive12.3
7spondylocostal dysostosis 3, autosomal recessive12.3
8autosomal dominant spondylocostal dysostosis12.2
9spondylocostal dysostosis 212.1
10spondylocostal dysostosis 112.1
11spondylocostal dysostosis 312.1
12spondylocostal dysostosis 412.1
13hes7-related spondylocostal dysostosis, autosomal recessive12.1
14lfng-related spondylocostal dysostosis, autosomal recessive12.1
15mesp2-related spondylocostal dysostosis, autosomal recessive12.1
16dll3-related spondylocostal dysostosis, autosomal recessive12.1
17ripply2-related spondylocostal dysostosis, autosomal recessive12.1
18spondylocostal dysostosis-anal and genitourinary malformations syndrome12.1
19hydrocephalus, costovertebral dysplasia, and sprengel anomaly12.1
20spondylocostal dysostosis 5, autosomal dominant12.0
21spondylocostal dysostosis-hypospadias-intellectual disability syndrome12.0
22dysostosis10.9
23neural tube defects10.0
24tetralogy of fallot10.0
25myelomeningocele10.0
26leiomyoma10.0
27cervicitis10.0
28situs inversus10.0
29dextrocardia10.0
30dextrocardia with situs inversus10.0
31lipomyelomeningocele10.0
32tetrasomy 9p10.0
33idiopathic scoliosis10.0DLL3, MESP2
34hajdu-cheney syndrome9.8DLL3, HES7
35combined oxidative phosphorylation deficiency 49.2HES7, MESP2, TBX6
36bardet-biedl syndrome8.5DLL3, HES7, LFNG, MESP2, TBX6
37tardbp-related amyotrophic lateral sclerosis8.4DLL3, HES7, LFNG, MESP2, RIPPLY2
38seckel syndrome7.4DLL3, HES7, LFNG, MESP2, MMAA, RIPPLY2

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



Diseases related to spondylocostal dysostosis

Symptoms for Spondylocostal Dysostosis

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Drugs & Therapeutics for Spondylocostal Dysostosis

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Spondylocostal Dysostosis

Genetic Tests for Spondylocostal Dysostosis

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Genetic tests related to Spondylocostal Dysostosis:

id Genetic test Affiliating Genes
1 Spondylocostal Dysostosis22 MESP2

Anatomical Context for Spondylocostal Dysostosis

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MalaCards organs/tissues related to Spondylocostal Dysostosis:

33
Bone, Endothelial, Prostate, Skin, B cells, T cells, Pituitary

FMA organs/tissues related to Spondylocostal Dysostosis:

16
Vertebrae or

Animal Models for Spondylocostal Dysostosis or affiliated genes

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MGI Mouse Phenotypes related to Spondylocostal Dysostosis:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053807.6DLL3, HES7, LFNG, MESP2, RIPPLY2, TBX6
2MP:00053717.5DLL3, HES7, LFNG, MESP2, RIPPLY2, TBX6
3MP:00053907.3DLL3, HES7, LFNG, MESP2, RIPPLY2, TBX6
4MP:00107687.2DLL3, HES7, LFNG, MESP2, RIPPLY2, TBX6
5MP:00053787.0DLL3, HES7, LFNG, MESP2, RIPPLY2, TBX6

Publications for Spondylocostal Dysostosis

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Articles related to Spondylocostal Dysostosis:

(show top 50)    (show all 61)
idTitleAuthorsYear
1
Spondylocostal dysostosis associated with right-sided polythelia, right-sided rib deformity and meningocoele: Case report with review of literature. (26962344)
2015
2
Spondylocostal dysostosis (Jarcho-Levine syndrome) associated with occult spinal dysraphism: Report of two cases. (26167215)
2015
3
Novel ENU-Induced Mutation in Tbx6 Causes Dominant Spondylocostal Dysostosis-Like Vertebral Malformations in the Rat. (26090680)
2015
4
Correction: Novel ENU-Induced Mutation in Tbx6 Causes Dominant Spondylocostal Dysostosis-Like Vertebral Malformations in the Rat. (26222705)
2015
5
Spondylocostal dysostosis with lipomyelomeningocele: Case report and review of the literature. (25624929)
2014
6
Spondylocostal dysostosis with tetralogy of Fallot and herniation of the spleen through the diaphragm. (24666313)
2014
7
A rare case of fetal spondylocostal dysostosis - prenatal diagnosis and perinatal care in a patient with multiple large leiomyomas. (23599829)
2013
8
Mutation of HES7 in a large extended family with spondylocostal dysostosis and dextrocardia with situs inversus. (23897666)
2013
9
Autosomal dominant spondylocostal dysostosis is caused by mutation in TBX6. (23335591)
2013
10
Clinical and radiological distinction between spondylothoracic dysostosis (Lavy-Moseley syndrome) and spondylocostal dysostosis (Jarcho-Levin syndrome). (21174082)
2011
11
Notch inhibition by the ligand DELTA-LIKE 3 defines the mechanism of abnormal vertebral segmentation in spondylocostal dysostosis. (21147753)
2011
12
Autosomal dominant spondylocostal dysostosis in three generations of a Macedonian family: Negative mutation analysis of DLL3, MESP2, HES7, and LFNG. (20503311)
2010
13
Two novel missense mutations in HAIRY-AND-ENHANCER-OF-SPLIT-7 in a family with spondylocostal dysostosis. (20087400)
2010
14
Spondylocostal dysostosis associated with methylmalonic aciduria. (19371216)
2009
15
Spinal anesthesia for Cesarean delivery in a parturient with spondylocostal dysostosis. (19247767)
2009
16
Spondylocostal dysostosis associated with diaphragmatic hernia and neural tube defects. (18388793)
2008
17
Spondylocostal dysostosis in a pregnancy complicated by confined placental mosaicism for tetrasomy 9p. (18627039)
2008
18
Diffuse skull base/cervical fusion syndromes in two siblings with spondylocostal dysostosis syndrome: analysis via three dimensional computed tomography scanning. (18520929)
2008
19
Mutation of Hairy-and-Enhancer-of-Split-7 in humans causes spondylocostal dysostosis. (18775957)
2008
20
Spondylocostal dysostosis, anal and genitourinary malformations in a fetal case: a new case of Casamassima-Morton-Nance syndrome? (17056308)
2007
21
Prenatal diagnosis of spondylocostal dysostosis with 3-dimensional ultrasonography. (16567446)
2006
22
A thoracic myelomeningocele in a patient with spondylocostal dysostosis. Case report. (16509479)
2006
23
Three-dimensional ultrasound findings of spondylocostal dysostosis in the second trimester of pregnancy. (16619382)
2006
24
Spine and rib abnormalities and stature in spondylocostal dysostosis. (16582839)
2006
25
Mutation of the LUNATIC FRINGE gene in humans causes spondylocostal dysostosis with a severe vertebral phenotype. (16385447)
2006
26
Mutated MESP2 causes spondylocostal dysostosis in humans. (15122512)
2004
27
Pseudodominant inheritance of spondylocostal dysostosis type 1 caused by two familial delta-like 3 mutations. (15200511)
2004
28
Association of spondylocostal dysostosis and type I split cord malformation. (14600825)
2003
29
A cluster of autosomal recessive spondylocostal dysostosis caused by three newly identified DLL3 mutations segregating in a small village. (12791036)
2003
30
Molecular genetic prenatal diagnosis for a case of autosomal recessive spondylocostal dysostosis. (12868087)
2003
31
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
32
Mutations in the human delta homologue, DLL3, cause axial skeletal defects in spondylocostal dysostosis. (10742114)
2000
33
Prenatal sonographic features of spondylocostal dysostosis and diaphragmatic hernia in the first trimester. (10204217)
1999
34
A case of spondylocostal dysostosis with a fra (5) (q32). (9433158)
1997
35
Spondylocostal dysostosis associated with a 46, XX,+15,dic(6;15)(q25;q11.2) translocation. (9354844)
1997
36
Monozygotic twins discordant for spondylocostal dysostosis. (7747763)
1994
37
Spondylocostal dysostosis with perinatal death and meningomyelocele. (8159620)
1994
38
Chest-wall reconstruction for spondylocostal dysostosis. (8356136)
1993
39
Spondylocostal Dysostosis, Autosomal Recessive (20301771)
1993
40
Spondylocostal dysostosis. (8200707)
1993
41
Identical twins with an autosomal recessive form of spondylocostal dysostosis. (1623623)
1992
42
Evidence for variable gene expression in a large inbred kindred with autosomal recessive spondylocostal dysostosis. (1999829)
1991
43
Spondylocostal dysostosis: dominant type. (2309760)
1990
44
Spondylocostal dysostosis: an example of autosomal dominant transmission in a large family. (2805381)
1989
45
Spondylothoracic and spondylocostal dysostosis. Hereditary forms of spinal deformity. (3339042)
1988
46
Spondylocostal dysostosis: report of three patients. (3331396)
1987
47
A new lethal chondrodysplasia with spondylocostal dysostosis, multiple internal anomalies and Dandy-Walker cyst. (3884191)
1985
48
Spondylocostal dysostosis. (6694190)
1984
49
Spondylocostal dysostosis associated with anal and urogenital anomalies in a Mennonite sibship. (7246601)
1981
50
Spondylocostal dysostosis and urinary tract anomaly: definition and review of an entity. (668719)
1978

Variations for Spondylocostal Dysostosis

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Expression for genes affiliated with Spondylocostal Dysostosis

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Search GEO for disease gene expression data for Spondylocostal Dysostosis.

Pathways for genes affiliated with Spondylocostal Dysostosis

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

idSuper pathwaysScoreTop Affiliating Genes
19.4DLL3, TBX6

GO Terms for genes affiliated with Spondylocostal Dysostosis

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

idNameGO IDScoreTop Affiliating Genes
1compartment pattern specificationGO:000738610.0DLL3, LFNG
2post-anal tail morphogenesisGO:00363429.5HES7, RIPPLY2
3Notch signaling pathwayGO:00072199.4DLL3, RIPPLY2
4somitogenesisGO:00017568.9HES7, LFNG, RIPPLY2
5negative regulation of transcription from RNA polymerase II promoterGO:00001228.6HES7, RIPPLY2, TBX6

Sources for Spondylocostal Dysostosis

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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