MCID: SPN016
MIFTS: 36

Spondylocostal Dysostosis malady

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

Aliases & Classifications for Spondylocostal Dysostosis

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Aliases & Descriptions for Spondylocostal Dysostosis:

Name: Spondylocostal Dysostosis 11 46 23 24 13
Spondylothoracic Dysostosis 11 46 23 24
Jarcho-Levin Syndrome 11 46 24 66
Spondylothoracic Dysplasia 11 46
Costovertebral Dysplasia 46 23
 
Scdo 46 24
Spondylocostal Dysostosis, Autosomal Recessive 3 11
Spondylocostal Dysplasia 23
Std 24

Classifications:



External Ids:

Disease Ontology11 DOID:0050568

Summaries for Spondylocostal Dysostosis

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NIH Rare Diseases:46 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 spondylothoracic dysostosis, is related to spondylocostal dysostosis 5 and spondylocostal dysostosis, 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 spleen, and related mouse phenotypes are embryo and mortality/aging.

Disease Ontology:11 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:24 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 spinal abnormalities, some of the rib bones may be fused together or missing. Affected individuals have short, rigid necks and short torsos 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:69 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 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

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

(show all 47)
idRelated DiseaseScoreTop Affiliating Genes
1spondylocostal dysostosis 512.3
2spondylocostal dysostosis, autosomal recessive12.3
3spondylocostal dysostosis 1, autosomal recessive12.3
4spondylocostal dysostosis 4, autosomal recessive12.3
5spondylocostal dysostosis 612.3
6spondylocostal dysostosis 3, autosomal recessive12.3
7spondylocostal dysostosis 2, autosomal recessive12.2
8mesp2-related spondylocostal dysostosis, autosomal recessive12.2
9hes7-related spondylocostal dysostosis, autosomal recessive12.1
10lfng-related spondylocostal dysostosis, autosomal recessive12.1
11hydrocephalus, sprengel anomaly, and costovertebral dysplasia12.1
12spondylocostal dysostosis with anal atresia and urogenital anomalies12.1
13dll3-related spondylocostal dysostosis, autosomal recessive12.1
14ripply2-related spondylocostal dysostosis, autosomal recessive12.1
15spondylocostal dysostosis 5, autosomal dominant12.0
16spondylocostal dysostosis-hypospadias-intellectual disability syndrome12.0
17dysostosis10.9
18herpes simplex10.6
19genital herpes10.6
20bacterial vaginosis10.5
21urethritis10.3
22chlamydia10.2
23hepatitis10.1
24viral hepatitis10.1
25neural tube defects10.1
26tetralogy of fallot10.1
27myelomeningocele10.1
28leiomyoma10.1
29cervicitis10.1
30situs inversus10.1
31dextrocardia10.1
32tetrasomy 9p10.1
33dextrocardia with situs inversus10.1
34lipomyelomeningocele10.1
35sclerosteosis10.0DLL3, MESP2
36vaginitis10.0
37syphilis10.0
38anogenital venereal wart9.9
39leukorrhea9.9
40pelvic inflammatory disease9.9
41bacteriuria9.9
42infertility9.9
43hajdu-cheney syndrome9.8DLL3, HES7
44vitamin k-dependent clotting factors, combined deficiency of, 29.2HES7, MESP2, TBX6
45intermittent squint8.5DLL3, HES7, LFNG, MESP2, TBX6
46tbc1d24-related disorders8.4DLL3, HES7, LFNG, MESP2, RIPPLY2
472-hydroxyglutaric aciduria7.3DLL3, 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 Dysostosis23 MESP2

Anatomical Context for Spondylocostal Dysostosis

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MalaCards organs/tissues related to Spondylocostal Dysostosis:

34
Bone, Spleen

FMA organs/tissues related to Spondylocostal Dysostosis:

17
Vertebrae or

Animal Models for Spondylocostal Dysostosis or affiliated genes

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MGI Mouse Phenotypes related to Spondylocostal Dysostosis:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053807.4DLL3, HES7, LFNG, MESP2, RIPPLY2, TBX6
2MP:00107687.3DLL3, HES7, LFNG, MESP2, RIPPLY2, TBX6
3MP:00053907.3DLL3, HES7, LFNG, MESP2, RIPPLY2, TBX6
4MP:00053787.2DLL3, HES7, LFNG, MESP2, RIPPLY2, TBX6
5MP:00053717.0DLL3, 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
Novel ENU-Induced Mutation in Tbx6 Causes Dominant Spondylocostal Dysostosis-Like Vertebral Malformations in the Rat. (26090680)
2015
3
Spondylocostal dysostosis (Jarcho-Levine syndrome) associated with occult spinal dysraphism: Report of two cases. (26167215)
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
Mutation of HES7 in a large extended family with spondylocostal dysostosis and dextrocardia with situs inversus. (23897666)
2013
8
A rare case of fetal spondylocostal dysostosis - prenatal diagnosis and perinatal care in a patient with multiple large leiomyomas. (23599829)
2013
9
Autosomal dominant spondylocostal dysostosis is caused by mutation in TBX6. (23335591)
2013
10
Notch inhibition by the ligand DELTA-LIKE 3 defines the mechanism of abnormal vertebral segmentation in spondylocostal dysostosis. (21147753)
2011
11
Clinical and radiological distinction between spondylothoracic dysostosis (Lavy-Moseley syndrome) and spondylocostal dysostosis (Jarcho-Levin syndrome). (21174082)
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
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 in a pregnancy complicated by confined placental mosaicism for tetrasomy 9p. (18627039)
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
Spondylocostal dysostosis: thirteen new cases treated by conservative and surgical means. (15223937)
2004
28
Pseudodominant inheritance of spondylocostal dysostosis type 1 caused by two familial delta-like 3 mutations. (15200511)
2004
29
Association of spondylocostal dysostosis and type I split cord malformation. (14600825)
2003
30
A cluster of autosomal recessive spondylocostal dysostosis caused by three newly identified DLL3 mutations segregating in a small village. (12791036)
2003
31
Molecular genetic prenatal diagnosis for a case of autosomal recessive spondylocostal dysostosis. (12868087)
2003
32
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
33
Mutations in the human delta homologue, DLL3, cause axial skeletal defects in spondylocostal dysostosis. (10742114)
2000
34
Prenatal sonographic features of spondylocostal dysostosis and diaphragmatic hernia in the first trimester. (10204217)
1999
35
A case of spondylocostal dysostosis with a fra (5) (q32). (9433158)
1997
36
Spondylocostal dysostosis with perinatal death and meningomyelocele. (8159620)
1994
37
Monozygotic twins discordant for spondylocostal dysostosis. (7747763)
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 in South African sisters. (7460377)
1981
50
Spondylocostal dysostosis associated with anal and urogenital anomalies in a Mennonite sibship. (7246601)
1981

Variations for Spondylocostal Dysostosis

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Copy number variations for Spondylocostal Dysostosis from CNVD:

6
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
196229158690000092100000Copy numberMESP2Spondylocostal dysostosis
211653617680000011200000Copy numberHES7Spondylocostal dysostosis
3128868194340000047800000Copy numberDLL3Spondylocostal dysostosis
4223467721000004500000Copy numberLFNGSpondylocostal dysostosis

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:

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1compartment pattern specificationGO:00073869.9DLL3, LFNG
2mesoderm developmentGO:00074989.9HES7, TBX6
3skeletal system developmentGO:00015019.8DLL3, HES7
4somite rostral/caudal axis specificationGO:00325259.7RIPPLY2, TBX6
5post-anal tail morphogenesisGO:00363429.6HES7, RIPPLY2
6regulation of somitogenesisGO:00148079.4HES7, LFNG
7Notch signaling pathwayGO:00072198.7DLL3, HES7, MESP2, RIPPLY2
8somitogenesisGO:00017568.6DLL3, HES7, LFNG, RIPPLY2
9negative regulation of transcription from RNA polymerase II promoterGO:00001228.6HES7, RIPPLY2, TBX6

Molecular functions related to Spondylocostal Dysostosis according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1protein dimerization activityGO:00469839.6HES7, MESP2

Sources for Spondylocostal Dysostosis

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet