MCID: SPN060
MIFTS: 41

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 53 12 49 24 71 36 28 13 69
Vertebral Fusion with Carpal Coalition 53 12 49 24 71
Spondylocarpotarsal Syndrome 53 12 49 24 71
Sct 53 12 49 24 71
Congenital Scoliosis with Unilateral Unsegmented Bar 12 24 71
Congenital Synspondylism 12 24 71
Spondylocarpotarsal Synostosis 12 55
Scoliosis, Congenital, with Unilateral Unsegmented Bar 53
Scoliosis, Congenital with Unilateral Unsegmented Bar 49
Synspondylism, Congenital 53
Synspondylism Congenital 49
Synspondylism 55
Sct Syndrome 24

Characteristics:

Orphanet epidemiological data:

55
spondylocarpotarsal synostosis
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood; Age of death: normal life expectancy;

OMIM:

53
Inheritance:
autosomal recessive


HPO:

31
spondylocarpotarsal synostosis syndrome:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Spondylocarpotarsal Synostosis Syndrome

NIH Rare Diseases : 49 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 vertebral fusion with carpal coalition, is related to synostosis and sacrococcygeal teratoma, and has symptoms including hypertelorism, short neck and scoliosis. 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.

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.

Genetics Home Reference : 24 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).

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

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 165)
# Related Disease Score Top Affiliating Genes
1 synostosis 30.0 FLNB MYH3
2 sacrococcygeal teratoma 11.3
3 chediak-higashi syndrome 11.3
4 scott syndrome 11.2
5 pancreatic cancer 11.1
6 multiple endocrine neoplasia, type i 11.0
7 exocrine pancreatic insufficiency 11.0
8 insulinoma 11.0
9 zollinger-ellison syndrome 11.0
10 pervasive developmental disorder 11.0
11 steatorrhea 11.0
12 duodenal ulcer 11.0
13 acute pancreatitis 11.0
14 pancreatitis 11.0
15 gastrinoma 11.0
16 autism 10.9
17 cystic fibrosis 10.9
18 dumping syndrome 10.9
19 angiodysplasia 10.9
20 duodenogastric reflux 10.9
21 biliary dyskinesia 10.9
22 alcoholic pancreatitis 10.9
23 peptic ulcer disease 10.9
24 gastrointestinal system disease 10.9
25 glucagonoma 10.9
26 recurrent acute pancreatitis 10.9
27 metaphyseal chondrodysplasia, jansen type 10.9
28 pancreatitis, hereditary 10.9
29 duodenal atresia 10.9
30 pancreatic agenesis 1 10.9
31 hyperinsulinemic hypoglycemia, familial, 2 10.9
32 hyperproinsulinemia 10.9
33 diphyllobothriasis 10.9
34 pancreatic steatorrhea 10.9
35 giardiasis 10.9
36 pancreas disease 10.9
37 duodenal disease 10.9
38 pancreatic gastrinoma 10.9
39 pancreatic cholera 10.9
40 duodenal gastrinoma 10.9
41 endocrine gland cancer 10.7
42 leukemia 10.2
43 lymphoma 10.2
44 bronchiolitis obliterans 10.1
45 bronchiolitis 10.1
46 amyloidosis 10.1
47 aplastic anemia 10.1
48 pulmonary fibrosis and/or bone marrow failure, telomere-related, 2 10.1
49 acute leukemia 10.1
50 al amyloidosis 10.1

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:

53
Head And Neck Eyes:
hypertelorism
cataract
rarefaction of retinal pigmentation
narrowing of retinal vessels

Skeletal Spine:
scoliosis
block vertebrae
lordosis
odontoid hypoplasia
fusion of vertebral bodies
more
Skeletal Feet:
pes planus
tarsal synostosis
club foot

Head And Neck Mouth:
cleft palate

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

Skeletal:
delayed bone age

Head And Neck Teeth:
enamel hypoplasia

Neurologic Central Nervous System:
mild developmental delay

Skeletal Pelvis:
bilateral proximal femoral epiphyseal dysplasia
sacral anomaly

Head And Neck Neck:
short neck

Genitourinary External Genitalia Male:
inguinal hernia

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

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

Respiratory Lung:
restrictive lung disease

Genitourinary Kidneys:
renal cysts

Growth Height:
short stature, disproportionate (short trunk)

Head And Neck Face:
round, broad face

Skeletal Limbs:
decreased range of motion at elbows
bowed humerus


Clinical features from OMIM:

272460

Human phenotypes related to Spondylocarpotarsal Synostosis Syndrome:

31 (show all 28)
# Description HPO Frequency HPO Source Accession
1 hypertelorism 31 HP:0000316
2 short neck 31 HP:0000470
3 scoliosis 31 HP:0002650
4 hyperlordosis 31 HP:0003307
5 cataract 31 HP:0000518
6 delayed skeletal maturation 31 HP:0002750
7 pes planus 31 HP:0001763
8 short nose 31 HP:0003196
9 sensorineural hearing impairment 31 HP:0000407
10 abnormality of retinal pigmentation 31 very rare (1%) HP:0007703
11 cleft palate 31 HP:0000175
12 epiphyseal dysplasia 31 HP:0002656
13 disproportionate short-trunk short stature 31 HP:0003521
14 clinodactyly of the 5th finger 31 HP:0004209
15 broad nasal tip 31 HP:0000455
16 abnormality of pelvic girdle bone morphology 31 HP:0002644
17 preauricular skin tag 31 HP:0000384
18 block vertebrae 31 HP:0003305
19 tarsal synostosis 31 HP:0008368
20 capitate-hamate fusion 31 HP:0001241
21 hypoplasia of the odontoid process 31 HP:0003311
22 renal cyst 31 HP:0000107
23 hypoplasia of dental enamel 31 HP:0006297
24 carpal synostosis 31 HP:0009702
25 mixed hearing impairment 31 HP:0000410
26 restrictive ventilatory defect 31 HP:0002091
27 broad face 31 HP:0000283
28 c2-c3 subluxation 31 HP:0008456

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:

# Genetic test Affiliating Genes
1 Spondylocarpotarsal Synostosis Syndrome 28 FLNB

Anatomical Context for Spondylocarpotarsal Synostosis Syndrome

MalaCards organs/tissues related to Spondylocarpotarsal Synostosis Syndrome:

38
Bone, Eye, Lung, Skin

Publications for Spondylocarpotarsal Synostosis Syndrome

Articles related to Spondylocarpotarsal Synostosis Syndrome:

(show all 15)
# Title Authors Year
1
Spondylocarpotarsal synostosis syndrome. A rare case of short stature and congenital scoliosis. ( 29263747 )
2017
2
Filamin B Loss-of-Function Mutation in Dimerization Domain Causes Autosomal-Recessive Spondylocarpotarsal Synostosis Syndrome with Rib Anomalies. ( 28145000 )
2017
3
Protein-altering MYH3 variants are associated with a spectrum of phenotypes extending to spondylocarpotarsal synostosis syndrome. ( 27381093 )
2016
4
Urolithiasis in a child with Spondylocarpotarsal Synostosis Syndrome: A Co-Incidence. ( 24179936 )
2013
5
Fetal alcohol syndrome: a phenocopy of spondylocarpotarsal synostosis syndrome? ( 20717009 )
2010
6
Expanded clinical spectrum of spondylocarpotarsal synostosis syndrome and possible manifestation in a heterozygous father. ( 18257094 )
2008
7
Disruption of the Flnb gene in mice phenocopies the human disease spondylocarpotarsal synostosis syndrome. ( 17635842 )
2008
8
Autosomal dominant spondylocarpotarsal synostosis syndrome: phenotypic homogeneity and genetic heterogeneity. ( 18470895 )
2008
9
Spondylocarpotarsal synostosis syndrome: MRI evaluation of vertebral and disk malformation. ( 16761119 )
2006
10
Atlanto-axial rotatory fixation in a girl with Spondylocarpotarsal synostosis syndrome. ( 17042937 )
2006
11
Spondylocarpotarsal synostosis syndrome (with a posterior midline unsegmented bar). ( 15891931 )
2005
12
A locus for spondylocarpotarsal synostosis syndrome at chromosome 3p14. ( 15060099 )
2004
13
Spondylocarpotarsal synostosis syndrome and cervical instability. ( 10766994 )
2000
14
Three new cases of spondylocarpotarsal synostosis syndrome: clinical and radiographic studies. ( 9557886 )
1998
15
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
# Gene Variation Type Significance SNP ID Assembly Location
1 FLNB NM_001457.3(FLNB): c.1945C> T (p.Arg649Ter) single nucleotide variant Pathogenic rs80356517 GRCh37 Chromosome 3, 58094188: 58094188
2 FLNB NM_001457.3(FLNB): c.7029T> G (p.Tyr2343Ter) single nucleotide variant Pathogenic rs80356518 GRCh37 Chromosome 3, 58148888: 58148888
3 FLNB NM_001457.3(FLNB): c.6408delC (p.Ser2137Leufs) deletion Pathogenic rs80356521 GRCh37 Chromosome 3, 58139142: 58139142
4 FLNB NM_001457.3(FLNB): c.2452C> T (p.Arg818Ter) single nucleotide variant Pathogenic rs80356519 GRCh37 Chromosome 3, 58095865: 58095865
5 FLNB NM_001457.3(FLNB): c.4819C> T (p.Arg1607Ter) single nucleotide variant Pathogenic rs80356520 GRCh37 Chromosome 3, 58121853: 58121853
6 FLNB NM_001457.3(FLNB): c.6010C> T (p.Arg2004Ter) single nucleotide variant Pathogenic rs121908897 GRCh37 Chromosome 3, 58134498: 58134498
7 FLNB NM_001457.3(FLNB): c.5548G> T (p.Gly1850Ter) single nucleotide variant Pathogenic rs121908898 GRCh37 Chromosome 3, 58131770: 58131770
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:

# 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:

# 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:

# 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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 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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