Spondylometaphyseal Dysplasia, Corner Fracture Type (SMDCF)

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

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.

Clinical features from OMIM:

184255

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

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