SMDCF
MCID: SPN360
MIFTS: 37

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 56 73
Spondylometaphyseal Dysplasia, Sutcliffe Type 56 58 73
Spondylometaphyseal Dysplasia, 'corner Fracture' Type 58 71
Sutcliffe Type of Spondylometaphyseal Dysplasia 52 73
Spondylometaphyseal Dysplasia - Sutcliffe Type 29 6
Smdcf 56 73
Dysplasia, Spondylometaphyseal, Corner Fracture Type 39
Spondylometaphyseal Dysplasia Corner Fracture Type 52
Spondylometaphyseal Dysplasia Sutcliffe Type 52
Sutcliffe Smd 52

Characteristics:

Orphanet epidemiological data:

58
spondylometaphyseal dysplasia, 'corner fracture' type
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide);

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
spondylometaphyseal dysplasia, corner fracture type:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM 56 184255
MeSH 43 D010009
MESH via Orphanet 44 C535793
ICD10 via Orphanet 33 Q77.8
UMLS via Orphanet 72 C0432221
Orphanet 58 ORPHA93315
MedGen 41 C0432221
UMLS 71 C0432221

Summaries for Spondylometaphyseal Dysplasia, Corner Fracture Type

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 93315 Definition Spondylometaphyseal 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). Epidemiology Less than 30 patients have been reported in the literature. Clinical description Tetralogy of Fallot and odontoid hypoplasia have been reported in single patients with this syndrome . Etiology Currently, there are no human genes associated with the disease. Genetic counseling Autosomal 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 coxa vara and spondyloepimetaphyseal dysplasia, strudwick type, 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 eye, and related phenotypes are ovoid vertebral bodies and micromelia

OMIM : 56 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 : 73 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 coxa vara 10.4
2 spondyloepimetaphyseal dysplasia, strudwick type 10.4
3 tetralogy of fallot 10.3
4 retinal perforation 9.6 FN1 COL2A1
5 vitreous disease 9.6 FN1 COL2A1
6 diastrophic dysplasia 9.6 FN1 COL2A1
7 brittle bone disorder 9.5 FN1 COL2A1
8 connective tissue disease 9.5 FN1 COL2A1
9 eye disease 9.4 FN1 COL2A1
10 cataract 9.2 FN1 COL2A1

Graphical network of the top 20 diseases related to Spondylometaphyseal Dysplasia, Corner Fracture Type:



Diseases related to Spondylometaphyseal Dysplasia, Corner Fracture Type

Symptoms & Phenotypes for Spondylometaphyseal Dysplasia, Corner Fracture Type

Human phenotypes related to Spondylometaphyseal Dysplasia, Corner Fracture Type:

58 31 (show all 21)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ovoid vertebral bodies 58 31 hallmark (90%) Very frequent (99-80%) HP:0003300
2 micromelia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002983
3 recurrent fractures 58 31 hallmark (90%) Very frequent (99-80%) HP:0002757
4 coxa vara 58 31 hallmark (90%) Very frequent (99-80%) HP:0002812
5 spondylometaphyseal dysplasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002657
6 abnormality of the wrist 58 31 hallmark (90%) Very frequent (99-80%) HP:0003019
7 hypoplasia of the odontoid process 58 31 hallmark (90%) Very frequent (99-80%) HP:0003311
8 mild short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0003502
9 metaphyseal irregularity 58 31 hallmark (90%) Very frequent (99-80%) HP:0003025
10 hyperlordosis 58 31 frequent (33%) Frequent (79-30%) HP:0003307
11 genu valgum 58 31 occasional (7.5%) Occasional (29-5%) HP:0002857
12 scoliosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002650
13 kyphosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002808
14 pes planus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001763
15 tetralogy of fallot 58 31 occasional (7.5%) Occasional (29-5%) HP:0001636
16 pectus carinatum 31 very rare (1%) HP:0000768
17 genu varum 31 very rare (1%) HP:0002970
18 short stature 31 HP:0004322
19 waddling gait 31 HP:0002515
20 short femoral neck 31 HP:0100864
21 hyperconvex vertebral body endplates 31 HP:0004603

Symptoms via clinical synopsis from OMIM:

56
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 29 FN1

Anatomical Context for Spondylometaphyseal Dysplasia, Corner Fracture Type

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

40
Bone, Eye

Publications for Spondylometaphyseal Dysplasia, Corner Fracture Type

Articles related to Spondylometaphyseal Dysplasia, Corner Fracture Type:

# Title Authors PMID Year
1
Mutations in Fibronectin Cause a Subtype of Spondylometaphyseal Dysplasia with "Corner Fractures". 56 6
29100092 2017
2
A dominantly inherited spondylometaphyseal dysplasia with "corner fractures" and congenital scoliosis. 56 6
15666313 2005
3
Spondylometaphyseal dysplasia, Sutcliffe type: a rediscovered entity. 61 56
1393702 1992
4
Spondylometaphyseal dysplasia, corner fracture type: a heritable condition associated with coxa vara. 61 56
2343127 1990
5
Developmental coxa vara associated with spondylometaphyseal dysplasia (DCV/SMD): "SMD-corner fracture type" (DCV/SMD-CF) demonstrated in most reported cases. 56
10663502 2000
6
Spondylometaphyseal dysplasia: a variant form. 56
4419008 1974
7
Spondylometaphyseal Dysplasia Corner Fracture (Sutcliffe) Type. 61
27130511 2016
8
Tetralogy of fallot in a patient with developmental coxa vara/spondylometaphyseal dysplasia-corner fracture type (DCV/SMD-CF) expanding the variability. 61
16001436 2005

Variations for Spondylometaphyseal Dysplasia, Corner Fracture Type

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

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 FN1 NM_212482.3(FN1):c.685+1G>CSNV Pathogenic 638046 2:216295437-216295437 2:215430714-215430714
2 FN1 NM_212482.3(FN1):c.778T>G (p.Cys260Gly)SNV Likely pathogenic 424647 rs1553658926 2:216292969-216292969 2:215428246-215428246
3 FN1 NM_212482.3(FN1):c.718T>G (p.Tyr240Asp)SNV Likely pathogenic 424646 rs1553659131 2:216293029-216293029 2:215428306-215428306
4 FN1 NM_212482.3(FN1):c.675C>G (p.Cys225Trp)SNV Likely pathogenic 424645 rs1181638652 2:216295448-216295448 2:215430725-215430725
5 FN1 NM_212482.3(FN1):c.367T>C (p.Cys123Arg)SNV Likely pathogenic 424644 rs1553667072 2:216298095-216298095 2:215433372-215433372
6 FN1 NM_212482.3(FN1):c.260G>T (p.Cys87Phe)SNV Likely pathogenic 424643 rs1553669703 2:216299436-216299436 2:215434713-215434713
7 FN1 NM_212482.3(FN1):c.2422_2424ACA[1] (p.Thr809del)short repeat Uncertain significance 424648 rs1553636502 2:216273022-216273024 2:215408299-215408301

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

73
# Symbol AA change Variation ID SNP ID
1 FN1 p.Cys87Phe VAR_080523 rs155366970
2 FN1 p.Cys123Arg VAR_080524 rs155366707
3 FN1 p.Cys225Trp VAR_080525
4 FN1 p.Tyr240Asp VAR_080526 rs155365913
5 FN1 p.Cys260Gly VAR_080527 rs155365892

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 12)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.39 FN1 COL2A1
2
Show member pathways
12.37 FN1 COL2A1
3
Show member pathways
12.31 FN1 COL2A1
4
Show member pathways
12.22 FN1 COL2A1
5
Show member pathways
12.13 FN1 COL2A1
6
Show member pathways
12.06 FN1 COL2A1
7
Show member pathways
11.88 FN1 COL2A1
8
Show member pathways
11.45 FN1 COL2A1
9 10.94 FN1 COL2A1
10 10.51 FN1 COL2A1
11 10.34 FN1 COL2A1
12 9.95 FN1 COL2A1

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 collagen-containing extracellular matrix GO:0062023 9.26 FN1 COL2A1
2 endoplasmic reticulum lumen GO:0005788 9.16 FN1 COL2A1
3 extracellular matrix GO:0031012 8.96 FN1 COL2A1
4 basement membrane GO:0005604 8.62 FN1 COL2A1

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 FN1 COL2A1

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 8.96 FN1 COL2A1
2 proteoglycan binding GO:0043394 8.62 FN1 COL2A1

Sources for Spondylometaphyseal Dysplasia, Corner Fracture Type

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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