SMDCF
MCID: SPN360
MIFTS: 34

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 57 74
Spondylometaphyseal Dysplasia, Sutcliffe Type 57 59 74
Spondylometaphyseal Dysplasia, 'corner Fracture' Type 59 72
Sutcliffe Type of Spondylometaphyseal Dysplasia 53 74
Spondylometaphyseal Dysplasia - Sutcliffe Type 29 6
Smdcf 57 74
Dysplasia, Spondylometaphyseal, Corner Fracture Type 40
Spondylometaphyseal Dysplasia Corner Fracture Type 53
Spondylometaphyseal Dysplasia Sutcliffe Type 53
Sutcliffe Smd 53

Characteristics:

Orphanet epidemiological data:

59
spondylometaphyseal dysplasia, 'corner fracture' type
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide);

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
spondylometaphyseal dysplasia, corner fracture type:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 184255
MeSH 44 D010009
MESH via Orphanet 45 C535793
ICD10 via Orphanet 34 Q77.8
UMLS via Orphanet 73 C0432221
Orphanet 59 ORPHA93315
MedGen 42 C0432221
UMLS 72 C0432221

Summaries for Spondylometaphyseal Dysplasia, Corner Fracture Type

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 93315DefinitionSpondylometaphyseal 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 : 57 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 : 74 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 29.4 FN1 COL2A1
2 coxa vara 10.4
3 tetralogy of fallot 10.3

Symptoms & Phenotypes for Spondylometaphyseal Dysplasia, Corner Fracture Type

Human phenotypes related to Spondylometaphyseal Dysplasia, Corner Fracture Type:

59 32 (show all 21)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ovoid vertebral bodies 59 32 hallmark (90%) Very frequent (99-80%) HP:0003300
2 micromelia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002983
3 recurrent fractures 59 32 hallmark (90%) Very frequent (99-80%) HP:0002757
4 coxa vara 59 32 hallmark (90%) Very frequent (99-80%) HP:0002812
5 spondylometaphyseal dysplasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002657
6 abnormality of the wrist 59 32 hallmark (90%) Very frequent (99-80%) HP:0003019
7 hypoplasia of the odontoid process 59 32 hallmark (90%) Very frequent (99-80%) HP:0003311
8 mild short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0003502
9 metaphyseal irregularity 59 32 hallmark (90%) Very frequent (99-80%) HP:0003025
10 hyperlordosis 59 32 frequent (33%) Frequent (79-30%) HP:0003307
11 genu valgum 59 32 occasional (7.5%) Occasional (29-5%) HP:0002857
12 scoliosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002650
13 kyphosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002808
14 pes planus 59 32 occasional (7.5%) Occasional (29-5%) HP:0001763
15 tetralogy of fallot 59 32 occasional (7.5%) Occasional (29-5%) HP:0001636
16 pectus carinatum 32 very rare (1%) HP:0000768
17 genu varum 32 very rare (1%) HP:0002970
18 short stature 32 HP:0004322
19 waddling gait 32 HP:0002515
20 short femoral neck 32 HP:0100864
21 hyperconvex vertebral body endplates 32 HP:0004603

Symptoms via clinical synopsis from OMIM:

57
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:

41
Bone

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". 8 71
29100092 2017
2
A dominantly inherited spondylometaphyseal dysplasia with "corner fractures" and congenital scoliosis. 8 71
15666313 2005
3
Spondylometaphyseal dysplasia, Sutcliffe type: a rediscovered entity. 38 8
1393702 1992
4
Spondylometaphyseal dysplasia, corner fracture type: a heritable condition associated with coxa vara. 38 8
2343127 1990
5
Developmental coxa vara associated with spondylometaphyseal dysplasia (DCV/SMD): "SMD-corner fracture type" (DCV/SMD-CF) demonstrated in most reported cases. 8
10663502 2000
6
Spondylometaphyseal dysplasia: a variant form. 8
4419008 1974
7
Spondylometaphyseal Dysplasia Corner Fracture (Sutcliffe) Type. 38
27130511 2016
8
Tetralogy of fallot in a patient with developmental coxa vara/spondylometaphyseal dysplasia-corner fracture type (DCV/SMD-CF) expanding the variability. 38
16001436 2005

Variations for Spondylometaphyseal Dysplasia, Corner Fracture Type

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

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

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

74
# 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 13)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.4 FN1 COL2A1
2
Show member pathways
12.38 FN1 COL2A1
3
Show member pathways
12.31 FN1 COL2A1
4
Show member pathways
12.26 FN1 COL2A1
5
Show member pathways
12.22 FN1 COL2A1
6
Show member pathways
12.02 FN1 COL2A1
7
Show member pathways
11.88 FN1 COL2A1
8
Show member pathways
11.54 FN1 COL2A1
9
Show member pathways
11.45 FN1 COL2A1
10 10.94 FN1 COL2A1
11 10.51 FN1 COL2A1
12 10.31 FN1 COL2A1
13 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 extracellular matrix GO:0031012 9.26 FN1 COL2A1
2 endoplasmic reticulum lumen GO:0005788 9.16 FN1 COL2A1
3 collagen-containing extracellular matrix GO:0062023 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 8.62 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 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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