MCID: SPN060
MIFTS: 40

Spondylocarpotarsal Synostosis Syndrome

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

Aliases & Classifications for Spondylocarpotarsal Synostosis Syndrome

MalaCards integrated aliases for Spondylocarpotarsal Synostosis Syndrome:

Name: Spondylocarpotarsal Synostosis Syndrome 54 12 50 24 25 71 29 13 69
Spondylocarpotarsal Syndrome 12 50 24 25 71
Vertebral Fusion with Carpal Coalition 12 50 25 71
Sct 12 50 25 71
Congenital Scoliosis with Unilateral Unsegmented Bar 12 25 71
Congenital Synspondylism 12 25 71
Spondylocarpotarsal Synostosis 12 56
Scoliosis, Congenital with Unilateral Unsegmented Bar 50
Synspondylism Congenital 50
Synspondylism 56
Sct Syndrome 25

Characteristics:

Orphanet epidemiological data:

56
spondylocarpotarsal synostosis
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood; Age of death: normal life expectancy;

OMIM:

54
Inheritance:
autosomal recessive


HPO:

32
spondylocarpotarsal synostosis syndrome:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Spondylocarpotarsal Synostosis Syndrome

NIH Rare Diseases : 50 spondylocarpotarsal synostosis (sct) syndrome is an inherited syndrome characterized by disproportionate short stature, abnormalities of the vertebrae in the spine, scoliosisand lordosis, carpal and tarsal fusion (fusion of the bones in the hands and feet), clubfoot, and facial abnormalities such as round face, large forehead, and up-turned nostrils. other features can include cleft palate, deafness, loose joints, and poor formation of tooth enamel. sct syndrome has been associated with retinal anomalies and cataracts. however, these eye problems are usually not severe enough to impair vision. this condition is caused by mutationsin the flnb gene. it is inherited in an autosomal recessive manner in families, which means that parents are usually unaffected and children have to have inherited a gene mutation from each parent. last updated: 2/26/2013

MalaCards based summary : Spondylocarpotarsal Synostosis Syndrome, also known as spondylocarpotarsal syndrome, is related to sacrococcygeal teratoma and chediak-higashi syndrome, and has symptoms including scoliosis, hypertelorism and cleft palate. An important gene associated with Spondylocarpotarsal Synostosis Syndrome is FLNB (Filamin B), and among its related pathways/superpathways is PAK Pathway. Affiliated tissues include bone, eye and lung.

UniProtKB/Swiss-Prot : 71 Spondylocarpotarsal synostosis syndrome: Disorder characterized by short stature and vertebral, carpal and tarsal fusions.

Genetics Home Reference : 25 Spondylocarpotarsal synostosis syndrome is a disorder that affects the development of bones throughout the body. Newborns with this disorder are of approximately normal length, but impaired growth of the trunk results in short stature over time. The bones of the spine (vertebrae) are misshapen and abnormally joined together (fused). The vertebral abnormalities may result in an abnormally curved lower back (lordosis) and a spine that curves to the side (scoliosis).

Disease Ontology : 12 A bone development disease characterized by postnatal progressive vertebral fusions frequently manifesting as block vertebrae, contributing to an undersized trunk and a disproportionate short stature, scoliosis, lordosis, carpal and tarsal synostosis, with club feet and a mild facial dysmorphism that has material basis in mutation in the FLNB gene on chromosome 3p14.3.

Description from OMIM: 272460

Related Diseases for Spondylocarpotarsal Synostosis Syndrome

Diseases related to Spondylocarpotarsal Synostosis Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 145)
id Related Disease Score Top Affiliating Genes
1 sacrococcygeal teratoma 11.2
2 chediak-higashi syndrome 11.1
3 scott syndrome 11.0
4 pancreatic cancer 11.0
5 autistic disorder 10.9
6 duodenal ulcer 10.9
7 steatorrhea 10.9
8 exocrine pancreatic insufficiency 10.9
9 zollinger-ellison syndrome 10.9
10 pervasive developmental disorder 10.9
11 acute pancreatitis 10.9
12 insulinoma 10.9
13 pancreatitis 10.9
14 gastrinoma 10.9
15 dumping syndrome 10.8
16 cystic fibrosis 10.8
17 duodenogastric reflux 10.8
18 recurrent acute pancreatitis 10.8
19 biliary dyskinesia 10.8
20 peptic ulcer disease 10.8
21 gastrointestinal system disease 10.8
22 glucagonoma 10.8
23 multiple endocrine neoplasia 1 10.8
24 hyperparathyroidism, familial primary 10.8
25 alcoholic pancreatitis 10.8
26 pancreatitis, hereditary 10.7
27 diphyllobothriasis 10.7
28 pancreatic cholera 10.7
29 duodenal disease 10.7
30 hyperproinsulinemia 10.7
31 angiodysplasia 10.7
32 pancreatic steatorrhea 10.7
33 pancreas disease 10.7
34 duodenal gastrinoma 10.7
35 giardiasis 10.7
36 pancreatic agenesis 1 10.7
37 space motion sickness 10.7
38 autism spectrum disorder 10.7
39 metaphyseal chondrodysplasia, murk jansen type 10.7
40 duodenal atresia 10.7
41 pancreatic gastrinoma 10.7
42 endocrine gland cancer 10.6
43 synostosis 10.5
44 leukemia 10.1
45 lymphoma 10.1
46 bronchiolitis obliterans 10.0
47 bronchiolitis 10.0
48 cervicitis 10.0
49 fetal alcohol syndrome 10.0
50 aplastic anemia 10.0

Graphical network of the top 20 diseases related to Spondylocarpotarsal Synostosis Syndrome:



Diseases related to Spondylocarpotarsal Synostosis Syndrome

Symptoms & Phenotypes for Spondylocarpotarsal Synostosis Syndrome

Symptoms via clinical synopsis from OMIM:

54

Skeletal- Spine:
scoliosis
lordosis
odontoid hypoplasia
abnormal spinal segmentation
block vertebrae
more
Head And Neck- Eyes:
hypertelorism
cataract
rarefaction of retinal pigmentation
narrowing of retinal vessels

Head And Neck- Nose:
short nose
anteverted nares
broad, square nasal tip

Head And Neck- Neck:
short neck

Genitourinary- Kidneys:
renal cysts

Head And Neck- Teeth:
enamel hypoplasia

Growth- Height:
short stature, disproportionate (short trunk)

Skeletal- Pelvis:
bilateral proximal femoral epiphyseal dysplasia

Skeletal:
delayed bone age

Head And Neck- Mouth:
cleft palate

Skeletal- Hands:
fifth finger clinodactyly
carpal synostosis (especially capitate-hamate and lunate-triquetrum)

Head And Neck- Ears:
sensorineural hearing loss
mixed hearing loss
preauricular skin tag

Respiratory- Lung:
restrictive lung disease

Skeletal- Feet:
pes planus
tarsal synostosis

Head And Neck- Face:
round, broad face

Skeletal- Limbs:
decreased range of motion at elbows


Clinical features from OMIM:

272460

Human phenotypes related to Spondylocarpotarsal Synostosis Syndrome:

32 (show all 26)
id Description HPO Frequency HPO Source Accession
1 scoliosis 32 HP:0002650
2 hypertelorism 32 HP:0000316
3 cleft palate 32 HP:0000175
4 short nose 32 HP:0003196
5 broad nasal tip 32 HP:0000455
6 short neck 32 HP:0000470
7 broad face 32 HP:0000283
8 cataract 32 HP:0000518
9 pes planus 32 HP:0001763
10 hyperlordosis 32 HP:0003307
11 delayed skeletal maturation 32 HP:0002750
12 preauricular skin tag 32 HP:0000384
13 rarefaction of retinal pigmentation 32 HP:0007961
14 block vertebrae 32 HP:0003305
15 c2-c3 subluxation 32 HP:0008456
16 tarsal synostosis 32 HP:0008368
17 epiphyseal dysplasia 32 HP:0002656
18 carpal synostosis 32 HP:0009702
19 renal cyst 32 HP:0000107
20 restrictive ventilatory defect 32 HP:0002091
21 disproportionate short-trunk short stature 32 HP:0003521
22 clinodactyly of the 5th finger 32 HP:0004209
23 abnormality of pelvic girdle bone morphology 32 HP:0002644
24 hypoplasia of the odontoid process 32 HP:0003311
25 hypoplasia of dental enamel 32 HP:0006297
26 mixed hearing impairment 32 HP:0000410

Drugs & Therapeutics for Spondylocarpotarsal Synostosis Syndrome

Search Clinical Trials , NIH Clinical Center for Spondylocarpotarsal Synostosis Syndrome

Genetic Tests for Spondylocarpotarsal Synostosis Syndrome

Genetic tests related to Spondylocarpotarsal Synostosis Syndrome:

id Genetic test Affiliating Genes
1 Spondylocarpotarsal Synostosis Syndrome 29 24 FLNB

Anatomical Context for Spondylocarpotarsal Synostosis Syndrome

MalaCards organs/tissues related to Spondylocarpotarsal Synostosis Syndrome:

39
Bone, Eye, Lung, Skin

Publications for Spondylocarpotarsal Synostosis Syndrome

Articles related to Spondylocarpotarsal Synostosis Syndrome:

(show all 14)
id Title Authors Year
1
Filamin B Loss-of-Function Mutation in Dimerization Domain Causes Autosomal-Recessive Spondylocarpotarsal Synostosis Syndrome with Rib Anomalies. ( 28145000 )
2017
2
Protein-altering MYH3 variants are associated with a spectrum of phenotypes extending to spondylocarpotarsal synostosis syndrome. ( 27381093 )
2016
3
Urolithiasis in a child with Spondylocarpotarsal Synostosis Syndrome: A Co-Incidence. ( 24179936 )
2013
4
Fetal alcohol syndrome: a phenocopy of spondylocarpotarsal synostosis syndrome? ( 20717009 )
2010
5
Expanded clinical spectrum of spondylocarpotarsal synostosis syndrome and possible manifestation in a heterozygous father. ( 18257094 )
2008
6
Disruption of the Flnb gene in mice phenocopies the human disease spondylocarpotarsal synostosis syndrome. ( 17635842 )
2008
7
Autosomal dominant spondylocarpotarsal synostosis syndrome: phenotypic homogeneity and genetic heterogeneity. ( 18470895 )
2008
8
Atlanto-axial rotatory fixation in a girl with Spondylocarpotarsal synostosis syndrome. ( 17042937 )
2006
9
Spondylocarpotarsal synostosis syndrome: MRI evaluation of vertebral and disk malformation. ( 16761119 )
2006
10
Spondylocarpotarsal synostosis syndrome (with a posterior midline unsegmented bar). ( 15891931 )
2005
11
A locus for spondylocarpotarsal synostosis syndrome at chromosome 3p14. ( 15060099 )
2004
12
Spondylocarpotarsal synostosis syndrome and cervical instability. ( 10766994 )
2000
13
Three new cases of spondylocarpotarsal synostosis syndrome: clinical and radiographic studies. ( 9557886 )
1998
14
Spondylocarpotarsal synostosis syndrome (with or without unilateral unsegmented bar). ( 8030662 )
1994

Variations for Spondylocarpotarsal Synostosis Syndrome

ClinVar genetic disease variations for Spondylocarpotarsal Synostosis Syndrome:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 FLNB NM_001457.3(FLNB): c.6408delC (p.Ser2137Leufs) deletion Pathogenic rs80356521 GRCh37 Chromosome 3, 58139142: 58139142
2 FLNB NM_001457.3(FLNB): c.2452C> T (p.Arg818Ter) single nucleotide variant Pathogenic rs80356519 GRCh37 Chromosome 3, 58095865: 58095865
3 FLNB NM_001457.3(FLNB): c.4819C> T (p.Arg1607Ter) single nucleotide variant Pathogenic rs80356520 GRCh37 Chromosome 3, 58121853: 58121853
4 FLNB NM_001457.3(FLNB): c.6010C> T (p.Arg2004Ter) single nucleotide variant Pathogenic rs121908897 GRCh37 Chromosome 3, 58134498: 58134498
5 FLNB NM_001457.3(FLNB): c.5548G> T (p.Gly1850Ter) single nucleotide variant Pathogenic rs121908898 GRCh37 Chromosome 3, 58131770: 58131770
6 FLNB NM_001457.3(FLNB): c.1945C> T (p.Arg649Ter) single nucleotide variant Pathogenic rs80356517 GRCh37 Chromosome 3, 58094188: 58094188
7 FLNB NM_001457.3(FLNB): c.7029T> G (p.Tyr2343Ter) single nucleotide variant Pathogenic rs80356518 GRCh37 Chromosome 3, 58148888: 58148888
8 FLNB NM_001457.3(FLNB): c.6616G> T (p.Gly2206Ter) single nucleotide variant Pathogenic rs886043158 GRCh37 Chromosome 3, 58139350: 58139350

Expression for Spondylocarpotarsal Synostosis Syndrome

Search GEO for disease gene expression data for Spondylocarpotarsal Synostosis Syndrome.

Pathways for Spondylocarpotarsal Synostosis Syndrome

Pathways related to Spondylocarpotarsal Synostosis Syndrome according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1
Show member pathways
11.69 FLNB MYH3

GO Terms for Spondylocarpotarsal Synostosis Syndrome

Biological processes related to Spondylocarpotarsal Synostosis Syndrome according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 muscle organ development GO:0007517 8.62 FLNB MYH3

Molecular functions related to Spondylocarpotarsal Synostosis Syndrome according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 actin binding GO:0003779 8.62 FLNB MYH3

Sources for Spondylocarpotarsal Synostosis Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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