SMDCF
MCID: SPN360
MIFTS: 34
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Spondylometaphyseal Dysplasia, Corner Fracture Type (SMDCF)
Categories:
Bone diseases, Fetal diseases, Genetic diseases, Rare diseases
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MalaCards integrated aliases for Spondylometaphyseal Dysplasia, Corner Fracture Type:
Characteristics:Orphanet epidemiological data:59
spondylometaphyseal dysplasia, 'corner fracture' type
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); HPO:32Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Bone diseases
ICD10:
34
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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. |
Diseases related to Spondylometaphyseal Dysplasia, Corner Fracture Type via text searches within MalaCards or GeneCards Suite gene sharing:
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Human phenotypes related to Spondylometaphyseal Dysplasia, Corner Fracture Type:59 32 (show all 21)
Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:184255UMLS symptoms related to Spondylometaphyseal Dysplasia, Corner Fracture Type:waddling gait |
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MalaCards organs/tissues related to Spondylometaphyseal Dysplasia, Corner Fracture Type:41
Bone
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Articles related to Spondylometaphyseal Dysplasia, Corner Fracture Type:
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ClinVar genetic disease variations for Spondylometaphyseal Dysplasia, Corner Fracture Type:6
UniProtKB/Swiss-Prot genetic disease variations for Spondylometaphyseal Dysplasia, Corner Fracture Type:74
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Search
GEO
for disease gene expression data for Spondylometaphyseal Dysplasia, Corner Fracture Type.
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Pathways related to Spondylometaphyseal Dysplasia, Corner Fracture Type according to GeneCards Suite gene sharing:(show all 13)
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Cellular components related to Spondylometaphyseal Dysplasia, Corner Fracture Type according to GeneCards Suite gene sharing:
Biological processes related to Spondylometaphyseal Dysplasia, Corner Fracture Type according to GeneCards Suite gene sharing:
Molecular functions related to Spondylometaphyseal Dysplasia, Corner Fracture Type according to GeneCards Suite gene sharing:
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