SCDO3
MCID: SPN297
MIFTS: 45

Spondylocostal Dysostosis 3, Autosomal Recessive (SCDO3)

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

Aliases & Classifications for Spondylocostal Dysostosis 3, Autosomal Recessive

MalaCards integrated aliases for Spondylocostal Dysostosis 3, Autosomal Recessive:

Name: Spondylocostal Dysostosis 3, Autosomal Recessive 58 76
Spondylocostal Dysostosis 12 54 26 38 15
Spondylocostal Dysostosis, Autosomal Recessive 3 12 13 74
Jarcho-Levin Syndrome 12 26 74
Scdo3 58 76
Scdo 54 26
Dysostosis, Spondylocostal, Autosomal Recessive, Type 3 41
Spondylothoracic Dysostosis 12
Spondylothoracic Dysplasia 12
Dysostosis, Spondylocostal 41
Costovertebral Dysplasia 54

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
two patients have been independently reported (last curated february 2019)


HPO:

33
spondylocostal dysostosis 3, autosomal recessive:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0050568
OMIM 58 609813
KEGG 38 H00517
MeSH 45 D004413
MedGen 43 C1853296

Summaries for Spondylocostal Dysostosis 3, Autosomal Recessive

NIH Rare Diseases : 54 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.

MalaCards based summary : Spondylocostal Dysostosis 3, Autosomal Recessive, also known as spondylocostal dysostosis, is related to spondylocostal dysostosis 5 and spondylocostal dysostosis 1, autosomal recessive. An important gene associated with Spondylocostal Dysostosis 3, Autosomal Recessive is LFNG (LFNG O-Fucosylpeptide 3-Beta-N-Acetylglucosaminyltransferase), and among its related pathways/superpathways are Notch signaling pathway and Wnt / Hedgehog / Notch. Affiliated tissues include vertebrae or, bone and heart, and related phenotypes are scoliosis and vertebral segmentation defect

Disease Ontology : 12 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 : 26 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.

UniProtKB/Swiss-Prot : 76 Spondylocostal dysostosis 3, autosomal recessive: A condition of variable severity associated with vertebral and rib segmentation defects. The main skeletal malformations include fusion of vertebrae, hemivertebrae, fusion of certain ribs, and other rib malformations. Deformity of the chest and spine (severe scoliosis, kyphoscoliosis and lordosis) is a natural consequence of the malformation and leads to a dwarf-like appearance. As the thorax is small, infants frequently have respiratory insufficiency and repeated respiratory infections resulting in life-threatening complications in the first year of life.

Wikipedia : 77 Spondylocostal dysostosis is a rare, heritable axial skeleton growth disorder. It is characterized by... more...

Description from OMIM: 609813

Related Diseases for Spondylocostal Dysostosis 3, Autosomal Recessive

Diseases in the Spondylocostal Dysostosis, Autosomal Recessive family:

Spondylocostal Dysostosis 5 Spondylocostal Dysostosis 1, Autosomal Recessive
Spondylocostal Dysostosis 2, Autosomal Recessive Spondylocostal Dysostosis 3, Autosomal Recessive
Spondylocostal Dysostosis 4, Autosomal Recessive Spondylocostal Dysostosis 6, Autosomal Recessive
Spondylocostal Dysostosis 1 Spondylocostal Dysostosis 2
Spondylocostal Dysostosis 3 Spondylocostal Dysostosis 4

Diseases related to Spondylocostal Dysostosis 3, Autosomal Recessive via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 45)
# Related Disease Score Top Affiliating Genes
1 spondylocostal dysostosis 5 33.0 HES7 TBX6
2 spondylocostal dysostosis 1, autosomal recessive 31.5 DLL3 HES7 LFNG MESP2
3 spondylocostal dysostosis, autosomal recessive 30.8 DLL3 HES7 LFNG MESP2 RIPPLY2
4 dysostosis 28.9 DLL3 HES7 LFNG MESP2 RIPPLY2 TBX6
5 scoliosis 28.3 DLL3 HES7 LFNG MESP2 RIPPLY2 TBX6
6 spondylocostal dysostosis 6, autosomal recessive 12.7
7 spondylocostal dysostosis 2, autosomal recessive 12.6
8 spondylocostal dysostosis 4, autosomal recessive 12.6
9 hydrocephalus, sprengel anomaly, and costovertebral dysplasia 12.5
10 spondylocostal dysostosis with anal atresia and urogenital anomalies 12.5
11 spondylocostal dysostosis 4 12.3
12 spondylocostal dysostosis-hypospadias-intellectual disability syndrome 12.2
13 spondylocostal dysostosis 3 11.5
14 neural tube defects 10.4
15 neural tube defects, folate-sensitive 10.4
16 spondylocostal dysostosis 1 10.4
17 myelomeningocele 10.3
18 chiari malformation type ii 10.3
19 diastematomyelia 10.3
20 wilms tumor 5 10.3
21 wilms tumor 6 10.3
22 pulmonary hypertension 10.3
23 hydrocephalus 10.3
24 meningocele 10.3
25 tethered spinal cord syndrome 10.3
26 hypothyroidism 10.3
27 atrial heart septal defect 10.3
28 chiari malformation 10.3
29 congenital hydrocephalus 10.3
30 split spinal cord malformation 10.3
31 heart disease 10.2
32 spondylocostal dysostosis 2 10.2
33 tetralogy of fallot 10.2
34 bronchomalacia 10.2
35 lipomyelomeningocele 10.2
36 hemangioma 10.2
37 methylmalonic acidemia 10.2
38 situs inversus 10.2
39 dextrocardia 10.2
40 dextrocardia with situs inversus 10.2
41 tetrasomy 9p 10.2
42 polydactyly 10.1
43 chromosomal triplication 10.0
44 trisomy 22 10.0
45 hajdu-cheney syndrome 9.5 DLL3 HES7

Graphical network of the top 20 diseases related to Spondylocostal Dysostosis 3, Autosomal Recessive:



Diseases related to Spondylocostal Dysostosis 3, Autosomal Recessive

Symptoms & Phenotypes for Spondylocostal Dysostosis 3, Autosomal Recessive

Human phenotypes related to Spondylocostal Dysostosis 3, Autosomal Recessive:

33
# Description HPO Frequency HPO Source Accession
1 scoliosis 33 HP:0002650
2 vertebral segmentation defect 33 HP:0003422
3 slender finger 33 HP:0001238
4 supernumerary vertebral ossification centers 33 HP:0004598

Symptoms via clinical synopsis from OMIM:

58
Skeletal Spine:
kyphosis
hypoplastic odontoid process
multiple vertebral anomalies
'pebble-beach' appearance of vertebral bodies
multiple vertebral ossification centers
more
Chest Ribs Sternum Clavicles And Scapulae:
fused ribs

Skeletal Limbs:
normal long bones

Growth Height:
short stature

Skeletal Pelvis:
normal pelvis

Clinical features from OMIM:

609813

MGI Mouse Phenotypes related to Spondylocostal Dysostosis 3, Autosomal Recessive:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 embryo MP:0005380 9.8 DLL3 HES7 LFNG MESP2 RIPPLY2 TBX6
2 growth/size/body region MP:0005378 9.73 DLL3 HES7 LFNG MESP2 RIPPLY2 TBX6
3 limbs/digits/tail MP:0005371 9.63 DLL3 HES7 LFNG MESP2 RIPPLY2 TBX6
4 mortality/aging MP:0010768 9.43 DLL3 HES7 LFNG MESP2 RIPPLY2 TBX6
5 skeleton MP:0005390 9.1 DLL3 HES7 LFNG MESP2 RIPPLY2 TBX6

Drugs & Therapeutics for Spondylocostal Dysostosis 3, Autosomal Recessive

Search Clinical Trials , NIH Clinical Center for Spondylocostal Dysostosis 3, Autosomal Recessive

Genetic Tests for Spondylocostal Dysostosis 3, Autosomal Recessive

Anatomical Context for Spondylocostal Dysostosis 3, Autosomal Recessive

The Foundational Model of Anatomy Ontology organs/tissues related to Spondylocostal Dysostosis 3, Autosomal Recessive:

20
Vertebrae Or

MalaCards organs/tissues related to Spondylocostal Dysostosis 3, Autosomal Recessive:

42
Bone, Heart, Spinal Cord, Spleen

Publications for Spondylocostal Dysostosis 3, Autosomal Recessive

Articles related to Spondylocostal Dysostosis 3, Autosomal Recessive:

(show top 50) (show all 70)
# Title Authors Year
1
Spondylocostal Dysostosis (Jarcho-Levin Syndrome) in an Adult Patient with Consanguineous Parents, in Long-Term Follow-Up. ( 30448585 )
2019
2
Identification of novel LFNG mutations in spondylocostal dysostosis. ( 30531807 )
2019
3
Bi-allelic loss of function variants of TBX6 causes a spectrum of malformation of spine and rib including congenital scoliosis and spondylocostal dysostosis. ( 31015262 )
2019
4
Spondylocostal Dysostosis (Jarcho Levin Syndrome). ( 29270795 )
2018
5
Spondylocostal Dysostosis: A Literature Review and Case Report with Long-Term Follow-Up of a Conservatively Managed Patient. ( 29765785 )
2018
6
Combined use of Neurally Adjusted Ventilatory Assist (NAVA) and Vertical Expandable Prostethic Titanium Rib (VEPTR) in a patient with Spondylocostal dysostosis and associated bronchomalacia. ( 28196820 )
2017
7
Autosomal recessive variations of TBX6, from congenital scoliosis to spondylocostal dysostosis. ( 27861764 )
2017
8
Congenital hemangioma in spondylocostal dysostosis: a novel association. ( 28300884 )
2016
9
Canine disorder mirrors human disease: exonic deletion in HES7 causes autosomal recessive spondylocostal dysostosis in miniature Schnauzer dogs. ( 25659135 )
2015
10
Novel ENU-Induced Mutation in Tbx6 Causes Dominant Spondylocostal Dysostosis-Like Vertebral Malformations in the Rat. ( 26090680 )
2015
11
Spondylocostal dysostosis (Jarcho-Levine syndrome) associated with occult spinal dysraphism: Report of two cases. ( 26167215 )
2015
12
Correction: Novel ENU-Induced Mutation in Tbx6 Causes Dominant Spondylocostal Dysostosis-Like Vertebral Malformations in the Rat. ( 26222705 )
2015
13
Spondylocostal dysostosis associated with right-sided polythelia, right-sided rib deformity and meningocoele: Case report with review of literature. ( 26962344 )
2015
14
Spondylocostal dysostosis with tetralogy of Fallot and herniation of the spleen through the diaphragm. ( 24666313 )
2014
15
Spondylocostal dysostosis with lipomyelomeningocele: Case report and review of the literature. ( 25624929 )
2014
16
Mutation of HES7 in a large extended family with spondylocostal dysostosis and dextrocardia with situs inversus. ( 23897666 )
2013
17
Spatiotemporal disorder in the axial skeleton development of the Mesp2-null mouse: a model of spondylocostal dysostosis and spondylothoracic dysostosis. ( 23238123 )
2013
18
Autosomal dominant spondylocostal dysostosis is caused by mutation in TBX6. ( 23335591 )
2013
19
Spondylocostal dysostosis associated with type I split cord malformation and double nipple on one side: a case report. ( 23546915 )
2013
20
A rare case of fetal spondylocostal dysostosis - prenatal diagnosis and perinatal care in a patient with multiple large leiomyomas. ( 23599829 )
2013
21
Notch inhibition by the ligand DELTA-LIKE 3 defines the mechanism of abnormal vertebral segmentation in spondylocostal dysostosis. ( 21147753 )
2011
22
Clinical and radiological distinction between spondylothoracic dysostosis (Lavy-Moseley syndrome) and spondylocostal dysostosis (Jarcho-Levin syndrome). ( 21174082 )
2011
23
Genetic and clinical profiles of spondylocostal dysostosis patients in Taiwan. ( 22052723 )
2011
24
Two novel missense mutations in HAIRY-AND-ENHANCER-OF-SPLIT-7 in a family with spondylocostal dysostosis. ( 20087400 )
2010
25
Autosomal dominant spondylocostal dysostosis in three generations of a Macedonian family: Negative mutation analysis of DLL3, MESP2, HES7, and LFNG. ( 20503311 )
2010
26
Spinal anesthesia for Cesarean delivery in a parturient with spondylocostal dysostosis. ( 19247767 )
2009
27
Spondylocostal dysostosis associated with methylmalonic aciduria. ( 19371216 )
2009
28
Diffuse skull base/cervical fusion syndromes in two siblings with spondylocostal dysostosis syndrome: analysis via three dimensional computed tomography scanning. ( 18520929 )
2008
29
Spondylocostal dysostosis in a pregnancy complicated by confined placental mosaicism for tetrasomy 9p. ( 18627039 )
2008
30
Mutation of Hairy-and-Enhancer-of-Split-7 in humans causes spondylocostal dysostosis. ( 18775957 )
2008
31
Spondylocostal dysostosis associated with diaphragmatic hernia and neural tube defects. ( 18388793 )
2008
32
Spondylocostal dysostosis, anal and genitourinary malformations in a fetal case: a new case of Casamassima-Morton-Nance syndrome? ( 17056308 )
2007
33
Mutation of the LUNATIC FRINGE gene in humans causes spondylocostal dysostosis with a severe vertebral phenotype. ( 16385447 )
2006
34
A thoracic myelomeningocele in a patient with spondylocostal dysostosis. Case report. ( 16509479 )
2006
35
Prenatal diagnosis of spondylocostal dysostosis with 3-dimensional ultrasonography. ( 16567446 )
2006
36
Spine and rib abnormalities and stature in spondylocostal dysostosis. ( 16582839 )
2006
37
Three-dimensional ultrasound findings of spondylocostal dysostosis in the second trimester of pregnancy. ( 16619382 )
2006
38
Mutated MESP2 causes spondylocostal dysostosis in humans. ( 15122512 )
2004
39
Pseudodominant inheritance of spondylocostal dysostosis type 1 caused by two familial delta-like 3 mutations. ( 15200511 )
2004
40
Spondylocostal dysostosis: thirteen new cases treated by conservative and surgical means. ( 15223937 )
2004
41
[Spondylocostal dysostosis: a rare genetic disease]. ( 15562550 )
2004
42
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
43
A cluster of autosomal recessive spondylocostal dysostosis caused by three newly identified DLL3 mutations segregating in a small village. ( 12791036 )
2003
44
Molecular genetic prenatal diagnosis for a case of autosomal recessive spondylocostal dysostosis. ( 12868087 )
2003
45
Association of spondylocostal dysostosis and type I split cord malformation. ( 14600825 )
2003
46
Chest-wall reconstruction in spondylocostal dysostosis: rare use of a latissimus dorsi flap. ( 12142673 )
2002
47
Dynamic expression patterns of the pudgy/spondylocostal dysostosis gene Dll3 in the developing nervous system. ( 11118901 )
2001
48
Mutations in the human delta homologue, DLL3, cause axial skeletal defects in spondylocostal dysostosis. ( 10742114 )
2000
49
Prenatal sonographic features of spondylocostal dysostosis and diaphragmatic hernia in the first trimester. ( 10204217 )
1999
50
A gene for autosomal recessive spondylocostal dysostosis maps to 19q13.1-q13.3. ( 10364530 )
1999

Variations for Spondylocostal Dysostosis 3, Autosomal Recessive

UniProtKB/Swiss-Prot genetic disease variations for Spondylocostal Dysostosis 3, Autosomal Recessive:

76
# Symbol AA change Variation ID SNP ID
1 LFNG p.Phe188Leu VAR_025850 rs104894024

ClinVar genetic disease variations for Spondylocostal Dysostosis 3, Autosomal Recessive:

6 (show all 14)
# Gene Variation Type Significance SNP ID Assembly Location
1 LFNG NM_001040167.1(LFNG): c.564C> A (p.Phe188Leu) single nucleotide variant Pathogenic rs104894024 GRCh37 Chromosome 7, 2564935: 2564935
2 LFNG NM_001040167.1(LFNG): c.564C> A (p.Phe188Leu) single nucleotide variant Pathogenic rs104894024 GRCh38 Chromosome 7, 2525301: 2525301
3 LFNG NM_001040167.1(LFNG): c.482-4A> G single nucleotide variant Benign rs62444250 GRCh37 Chromosome 7, 2564849: 2564849
4 LFNG NM_001040167.1(LFNG): c.482-4A> G single nucleotide variant Benign rs62444250 GRCh38 Chromosome 7, 2525215: 2525215
5 LFNG NM_001040167.1(LFNG): c.643G> A (p.Ala215Thr) single nucleotide variant Uncertain significance rs1160316709 GRCh37 Chromosome 7, 2565109: 2565109
6 LFNG NM_001040167.1(LFNG): c.643G> A (p.Ala215Thr) single nucleotide variant Uncertain significance rs1160316709 GRCh38 Chromosome 7, 2525475: 2525475
7 LFNG NM_001040167.1(LFNG): c.653C> T (p.Pro218Leu) single nucleotide variant Uncertain significance rs148460430 GRCh37 Chromosome 7, 2565119: 2565119
8 LFNG NM_001040167.1(LFNG): c.653C> T (p.Pro218Leu) single nucleotide variant Uncertain significance rs148460430 GRCh38 Chromosome 7, 2525485: 2525485
9 LFNG NM_001040167.1(LFNG): c.723C> T (p.Ser241=) single nucleotide variant Likely benign rs115678269 GRCh38 Chromosome 7, 2525555: 2525555
10 LFNG NM_001040167.1(LFNG): c.723C> T (p.Ser241=) single nucleotide variant Likely benign rs115678269 GRCh37 Chromosome 7, 2565189: 2565189
11 LFNG NM_001040168.1(LFNG): c.601G> A (p.Asp201Asn) single nucleotide variant Pathogenic GRCh38 Chromosome 7, 2525433: 2525433
12 LFNG NM_001040168.1(LFNG): c.601G> A (p.Asp201Asn) single nucleotide variant Pathogenic GRCh37 Chromosome 7, 2565067: 2565067
13 LFNG NM_001040168.1(LFNG): c.372del (p.Lys124Asnfs) deletion Pathogenic GRCh38 Chromosome 7, 2520233: 2520233
14 LFNG NM_001040168.1(LFNG): c.372del (p.Lys124Asnfs) deletion Pathogenic GRCh37 Chromosome 7, 2559867: 2559867

Copy number variations for Spondylocostal Dysostosis 3, Autosomal Recessive from CNVD:

7
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 96229 15 86900000 92100000 Copy number MESP2 Spondylocostal dysostosis
2 116536 17 6800000 11200000 Copy number HES7 Spondylocostal dysostosis
3 128868 19 43400000 47800000 Copy number DLL3 Spondylocostal dysostosis
4 223467 7 2100000 4500000 Copy number LFNG Spondylocostal dysostosis

Expression for Spondylocostal Dysostosis 3, Autosomal Recessive

Search GEO for disease gene expression data for Spondylocostal Dysostosis 3, Autosomal Recessive.

Pathways for Spondylocostal Dysostosis 3, Autosomal Recessive

Pathways related to Spondylocostal Dysostosis 3, Autosomal Recessive according to KEGG:

38
# Name Kegg Source Accession
1 Notch signaling pathway hsa04330

Pathways related to Spondylocostal Dysostosis 3, Autosomal Recessive according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.42 DLL3 LFNG
2 10.96 DLL3 TBX6
3 10.06 HES7 LFNG MESP2 RIPPLY2 TBX6

GO Terms for Spondylocostal Dysostosis 3, Autosomal Recessive

Biological processes related to Spondylocostal Dysostosis 3, Autosomal Recessive according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 negative regulation of transcription by RNA polymerase II GO:0000122 9.65 HES7 RIPPLY2 TBX6
2 skeletal system development GO:0001501 9.46 DLL3 HES7
3 Notch signaling pathway GO:0007219 9.46 DLL3 HES7 MESP2 RIPPLY2
4 mesoderm development GO:0007498 9.43 HES7 TBX6
5 multicellular organism development GO:0007275 9.43 DLL3 HES7 LFNG MESP2 RIPPLY2 TBX6
6 post-anal tail morphogenesis GO:0036342 9.4 HES7 RIPPLY2
7 somite rostral/caudal axis specification GO:0032525 9.37 RIPPLY2 TBX6
8 regulation of somitogenesis GO:0014807 9.32 HES7 LFNG
9 compartment pattern specification GO:0007386 9.26 DLL3 LFNG
10 somitogenesis GO:0001756 9.02 DLL3 HES7 LFNG MESP2 RIPPLY2

Sources for Spondylocostal Dysostosis 3, Autosomal Recessive

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
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31 HGMD
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33 HPO
34 ICD10
35 ICD10 via Orphanet
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63 PubMed
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70 SNOMED-CT via HPO
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