SMDCF
MCID: SPN360
MIFTS: 35

Spondylometaphyseal Dysplasia, Corner Fracture Type (SMDCF)

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

Aliases & Classifications for Spondylometaphyseal Dysplasia, Corner Fracture Type

MalaCards integrated aliases for Spondylometaphyseal Dysplasia, Corner Fracture Type:

Name: Spondylometaphyseal Dysplasia, Corner Fracture Type 58 76
Spondylometaphyseal Dysplasia, Sutcliffe Type 58 60 76
Spondylometaphyseal Dysplasia, 'corner Fracture' Type 60 74
Sutcliffe Type of Spondylometaphyseal Dysplasia 54 76
Spondylometaphyseal Dysplasia - Sutcliffe Type 30 6
Smdcf 58 76
Dysplasia, Spondylometaphyseal, Corner Fracture Type 41
Spondylometaphyseal Dysplasia Corner Fracture Type 54
Spondylometaphyseal Dysplasia Sutcliffe Type 54
Sutcliffe Smd 54

Characteristics:

Orphanet epidemiological data:

60
spondylometaphyseal dysplasia, 'corner fracture' type
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide);

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
spondylometaphyseal dysplasia, corner fracture type:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 184255
MeSH 45 D010009
MESH via Orphanet 46 C535793
ICD10 via Orphanet 35 Q77.8
UMLS via Orphanet 75 C0432221
Orphanet 60 ORPHA93315
MedGen 43 C0432221
UMLS 74 C0432221

Summaries for Spondylometaphyseal Dysplasia, Corner Fracture Type

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 93315Disease definitionSpondylometaphyseal dysplasia, 'corner fracture' type is a skeletal dysplasia associated with short stature, developmental coxa vara, progressive hip deformity, simulated 'corner fractures' of long tubular bones and vertebral body abnormalities (mostly oval vertebral bodies).EpidemiologyLess than 30 patients have been reported in the literature.Clinical descriptionTetralogy of Fallot and odontoid hypoplasia have been reported in single patients with this syndrome.EtiologyCurrently, there are no human genes associated with the disease.Genetic counselingAutosomal dominant inheritance has been suggested.Visit the Orphanet disease page for more resources.

MalaCards based summary : Spondylometaphyseal Dysplasia, Corner Fracture Type, also known as spondylometaphyseal dysplasia, sutcliffe type, is related to spondyloepimetaphyseal dysplasia, strudwick type and coxa vara, and has symptoms including waddling gait An important gene associated with Spondylometaphyseal Dysplasia, Corner Fracture Type is FN1 (Fibronectin 1), and among its related pathways/superpathways are Phospholipase-C Pathway and RNA Polymerase II Transcription Initiation And Promoter Clearance. Affiliated tissues include bone, and related phenotypes are ovoid vertebral bodies and micromelia

OMIM : 58 The corner fracture type of spondylometaphyseal dysplasia is characterized by flake-like, triangular, or curvilinear ossification centers at the edges of irregular metaphyses that simulate fractures. These 'corner fractures,' which involve the distal tibia, the ulnar aspect of the distal radius, the proximal humerus, and the proximal femur, represent irregular ossification at the growth plates and secondary ossification centers. They become larger in older children and disappear after growth has stopped. In addition, severe scoliosis has been observed in FN1-associated SMDCF, whereas developmental coxa vara is less often seen, and odontoid abnormalities have not been reported (Lee et al., 2017). (184255)

UniProtKB/Swiss-Prot : 76 Spondylometaphyseal dysplasia, corner fracture type: An autosomal dominant form of spondylometaphyseal dysplasia, a group of short stature disorders distinguished by abnormalities in the vertebrae and the metaphyses of the tubular bones. SMDCF is characterized by flake-like, triangular, or curvilinear ossification centers at the edges of irregular metaphyses that simulate fractures. These corner fractures involve the distal tibia, the ulnar aspect of the distal radius, the proximal humerus, and the proximal femur. They represent irregular ossification at the growth plates and secondary ossification centers.

Related Diseases for Spondylometaphyseal Dysplasia, Corner Fracture Type

Diseases related to Spondylometaphyseal Dysplasia, Corner Fracture Type via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 spondyloepimetaphyseal dysplasia, strudwick type 29.9 FN1 COL2A1
2 coxa vara 10.4
3 tetralogy of fallot 10.3
4 nipah virus disease 10.3

Symptoms & Phenotypes for Spondylometaphyseal Dysplasia, Corner Fracture Type

Human phenotypes related to Spondylometaphyseal Dysplasia, Corner Fracture Type:

60 33 (show all 20)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ovoid vertebral bodies 60 33 hallmark (90%) Very frequent (99-80%) HP:0003300
2 micromelia 60 33 hallmark (90%) Very frequent (99-80%) HP:0002983
3 recurrent fractures 60 33 hallmark (90%) Very frequent (99-80%) HP:0002757
4 coxa vara 60 33 hallmark (90%) Very frequent (99-80%) HP:0002812
5 spondylometaphyseal dysplasia 60 33 hallmark (90%) Very frequent (99-80%) HP:0002657
6 abnormality of the wrist 60 33 hallmark (90%) Very frequent (99-80%) HP:0003019
7 hypoplasia of the odontoid process 60 33 hallmark (90%) Very frequent (99-80%) HP:0003311
8 mild short stature 60 33 hallmark (90%) Very frequent (99-80%) HP:0003502
9 metaphyseal irregularity 60 33 hallmark (90%) Very frequent (99-80%) HP:0003025
10 hyperlordosis 60 33 frequent (33%) Frequent (79-30%) HP:0003307
11 genu valgum 60 33 occasional (7.5%) Occasional (29-5%) HP:0002857
12 scoliosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0002650
13 kyphosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0002808
14 pes planus 60 33 occasional (7.5%) Occasional (29-5%) HP:0001763
15 tetralogy of fallot 60 33 occasional (7.5%) Occasional (29-5%) HP:0001636
16 genu varum 33 very rare (1%) HP:0002970
17 short stature 33 HP:0004322
18 waddling gait 33 HP:0002515
19 short femoral neck 33 HP:0100864
20 hyperconvex vertebral body endplates 33 HP:0004603

Symptoms via clinical synopsis from OMIM:

58
Skeletal Spine:
scoliosis
ovoid vertebral bodies

Chest Ribs Sternum Clavicles And Scapulae:
pectus carinatum (in some patients)

Skeletal Limbs:
irregular metaphyses
corner fractures
genu varum (in some patients)

Growth Height:
short stature

Skeletal Pelvis:
coxa vara, developmental (in some patients)

Clinical features from OMIM:

184255

UMLS symptoms related to Spondylometaphyseal Dysplasia, Corner Fracture Type:


waddling gait

Drugs & Therapeutics for Spondylometaphyseal Dysplasia, Corner Fracture Type

Search Clinical Trials , NIH Clinical Center for Spondylometaphyseal Dysplasia, Corner Fracture Type

Genetic Tests for Spondylometaphyseal Dysplasia, Corner Fracture Type

Genetic tests related to Spondylometaphyseal Dysplasia, Corner Fracture Type:

# Genetic test Affiliating Genes
1 Spondylometaphyseal Dysplasia - Sutcliffe Type 30 FN1

Anatomical Context for Spondylometaphyseal Dysplasia, Corner Fracture Type

MalaCards organs/tissues related to Spondylometaphyseal Dysplasia, Corner Fracture Type:

42
Bone

Publications for Spondylometaphyseal Dysplasia, Corner Fracture Type

Articles related to Spondylometaphyseal Dysplasia, Corner Fracture Type:

# Title Authors Year
1
Tetralogy of fallot in a patient with developmental coxa vara/spondylometaphyseal dysplasia-corner fracture type (DCV/SMD-CF) expanding the variability. ( 16001436 )
2005
2
Spondylometaphyseal dysplasia, Sutcliffe type: a rediscovered entity. ( 1393702 )
1992
3
Spondylometaphyseal dysplasia, corner fracture type: a heritable condition associated with coxa vara. ( 2343127 )
1990

Variations for Spondylometaphyseal Dysplasia, Corner Fracture Type

UniProtKB/Swiss-Prot genetic disease variations for Spondylometaphyseal Dysplasia, Corner Fracture Type:

76
# Symbol AA change Variation ID SNP ID
1 FN1 p.Cys87Phe VAR_080523
2 FN1 p.Cys123Arg VAR_080524
3 FN1 p.Cys225Trp VAR_080525
4 FN1 p.Tyr240Asp VAR_080526
5 FN1 p.Cys260Gly VAR_080527

ClinVar genetic disease variations for Spondylometaphyseal Dysplasia, Corner Fracture Type:

6 (show all 12)
# Gene Variation Type Significance SNP ID Assembly Location
1 FN1 NM_212482.2(FN1): c.2425_2427delACA (p.Thr809del) deletion Uncertain significance rs1553636502 GRCh38 Chromosome 2, 215408299: 215408301
2 FN1 NM_212482.2(FN1): c.2425_2427delACA (p.Thr809del) deletion Uncertain significance rs1553636502 GRCh37 Chromosome 2, 216273022: 216273024
3 FN1 NM_212482.3(FN1): c.778T> G (p.Cys260Gly) single nucleotide variant Likely pathogenic rs1553658926 GRCh38 Chromosome 2, 215428246: 215428246
4 FN1 NM_212482.3(FN1): c.778T> G (p.Cys260Gly) single nucleotide variant Likely pathogenic rs1553658926 GRCh37 Chromosome 2, 216292969: 216292969
5 FN1 NM_212482.3(FN1): c.718T> G (p.Tyr240Asp) single nucleotide variant Likely pathogenic rs1553659131 GRCh38 Chromosome 2, 215428306: 215428306
6 FN1 NM_212482.3(FN1): c.718T> G (p.Tyr240Asp) single nucleotide variant Likely pathogenic rs1553659131 GRCh37 Chromosome 2, 216293029: 216293029
7 FN1 NM_212482.3(FN1): c.675C> G (p.Cys225Trp) single nucleotide variant Likely pathogenic rs1181638652 GRCh37 Chromosome 2, 216295448: 216295448
8 FN1 NM_212482.3(FN1): c.675C> G (p.Cys225Trp) single nucleotide variant Likely pathogenic rs1181638652 GRCh38 Chromosome 2, 215430725: 215430725
9 FN1 NM_212482.3(FN1): c.367T> C (p.Cys123Arg) single nucleotide variant Likely pathogenic rs1553667072 GRCh37 Chromosome 2, 216298095: 216298095
10 FN1 NM_212482.3(FN1): c.367T> C (p.Cys123Arg) single nucleotide variant Likely pathogenic rs1553667072 GRCh38 Chromosome 2, 215433372: 215433372
11 FN1 NM_212482.3(FN1): c.260G> T (p.Cys87Phe) single nucleotide variant Likely pathogenic rs1553669703 GRCh37 Chromosome 2, 216299436: 216299436
12 FN1 NM_212482.3(FN1): c.260G> T (p.Cys87Phe) single nucleotide variant Likely pathogenic rs1553669703 GRCh38 Chromosome 2, 215434713: 215434713

Expression for Spondylometaphyseal Dysplasia, Corner Fracture Type

Search GEO for disease gene expression data for Spondylometaphyseal Dysplasia, Corner Fracture Type.

Pathways for Spondylometaphyseal Dysplasia, Corner Fracture Type

Pathways related to Spondylometaphyseal Dysplasia, Corner Fracture Type according to GeneCards Suite gene sharing:

(show all 13)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.4 COL2A1 FN1
2
Show member pathways
12.39 COL2A1 FN1
3
Show member pathways
12.31 COL2A1 FN1
4
Show member pathways
12.26 COL2A1 FN1
5
Show member pathways
12.22 COL2A1 FN1
6
Show member pathways
12.02 COL2A1 FN1
7
Show member pathways
11.88 COL2A1 FN1
8
Show member pathways
11.54 COL2A1 FN1
9
Show member pathways
11.43 COL2A1 FN1
10 10.94 COL2A1 FN1
11 10.51 COL2A1 FN1
12 10.31 COL2A1 FN1
13 9.95 COL2A1 FN1

GO Terms for Spondylometaphyseal Dysplasia, Corner Fracture Type

Cellular components related to Spondylometaphyseal Dysplasia, Corner Fracture Type according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix GO:0031012 9.26 COL2A1 FN1
2 endoplasmic reticulum lumen GO:0005788 9.16 COL2A1 FN1
3 collagen-containing extracellular matrix GO:0062023 8.96 COL2A1 FN1
4 basement membrane GO:0005604 8.62 COL2A1 FN1

Biological processes related to Spondylometaphyseal Dysplasia, Corner Fracture Type according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix organization GO:0030198 8.62 COL2A1 FN1

Molecular functions related to Spondylometaphyseal Dysplasia, Corner Fracture Type according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix structural constituent GO:0005201 8.62 COL2A1 FN1

Sources for Spondylometaphyseal Dysplasia, Corner Fracture Type

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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