MCID: SPN360
MIFTS: 32

Spondylometaphyseal Dysplasia, Corner Fracture Type

Categories: Genetic diseases, Rare diseases, Bone diseases, Fetal 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 75
Spondylometaphyseal Dysplasia, Sutcliffe Type 57 59 75
Spondylometaphyseal Dysplasia, 'corner Fracture' Type 59 73
Sutcliffe Type of Spondylometaphyseal Dysplasia 53 75
Spondylometaphyseal Dysplasia - Sutcliffe Type 29 6
Smdcf 57 75
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
Orphanet 59 ORPHA93315
MESH via Orphanet 45 C535793
UMLS via Orphanet 74 C0432221
ICD10 via Orphanet 34 Q77.8
MedGen 42 C0432221
MeSH 44 D010009
UMLS 73 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: 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 PI3K-Akt signaling pathway. Affiliated tissues include bone, and related phenotypes are tetralogy of fallot and pes planus

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 : 75 Spondylometaphyseal dysplasia, corner fracture type: A 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 29.0 COL2A1 FN1
2 coxa vara 10.1
3 trehalase deficiency 9.0 COL2A1 FN1

Symptoms & Phenotypes for Spondylometaphyseal Dysplasia, Corner Fracture Type

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

Human phenotypes related to Spondylometaphyseal Dysplasia, Corner Fracture Type:

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

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 Year
1
Spondylometaphyseal dysplasia, corner fracture type: a heritable condition associated with coxa vara. ( 2343127 )
1990

Variations for Spondylometaphyseal Dysplasia, Corner Fracture Type

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 FN1 NM_212482.2(FN1): c.718T> G (p.Tyr240Asp) single nucleotide variant Pathogenic/Likely pathogenic GRCh38 Chromosome 2, 215428306: 215428306
2 FN1 NM_212482.2(FN1): c.718T> G (p.Tyr240Asp) single nucleotide variant Pathogenic/Likely pathogenic GRCh37 Chromosome 2, 216293029: 216293029
3 FN1 NM_212482.2(FN1): c.367T> C (p.Cys123Arg) single nucleotide variant Pathogenic/Likely pathogenic GRCh37 Chromosome 2, 216298095: 216298095
4 FN1 NM_212482.2(FN1): c.367T> C (p.Cys123Arg) single nucleotide variant Pathogenic/Likely pathogenic GRCh38 Chromosome 2, 215433372: 215433372
5 FN1 NM_212482.2(FN1): c.260G> T (p.Cys87Phe) single nucleotide variant Pathogenic/Likely pathogenic GRCh37 Chromosome 2, 216299436: 216299436
6 FN1 NM_212482.2(FN1): c.260G> T (p.Cys87Phe) single nucleotide variant Pathogenic/Likely pathogenic 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:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.37 COL2A1 FN1
2
Show member pathways
12.26 COL2A1 FN1
3
Show member pathways
12.22 COL2A1 FN1
4
Show member pathways
12.17 COL2A1 FN1
5
Show member pathways
12.02 COL2A1 FN1
6
Show member pathways
11.88 COL2A1 FN1
7
Show member pathways
11.43 COL2A1 FN1
8 10.94 COL2A1 FN1
9 10.51 COL2A1 FN1
10 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 endoplasmic reticulum lumen GO:0005788 9.16 COL2A1 FN1
2 extracellular matrix GO:0031012 8.96 COL2A1 FN1
3 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

Sources for Spondylometaphyseal Dysplasia, Corner Fracture Type

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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