Spondylometaphyseal dysplasia, 'corner fracture' type

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).



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Narrow down the case reports



Total: 2 (papers)

   


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(30.2%)		 1393702
 Spondylometaphyseal dysplasia, Sutcliffe type: a rediscovered entity.
Kozlowski K, Napiontek M, Beim ER.
Can Assoc Radiol J. 1992;43(5):364-8.
Coxa vara
Child Child, Preschool Females Hip Joint Homo sapiens Male Osteochondrodysplasias
2
(21.2%)		 27130511
 Spondylometaphyseal Dysplasia Corner Fracture (Sutcliffe) Type.
Nair N, Satapathy AK, Gupta N, Kabra M, Gupta AK, Jana M.
Indian J Pediatr. 2016;83(10):1191-4.
Skeletal dysplasia
Child, Preschool Differential Diagnosis Homo sapiens Osteochondrodysplasias
        

Phenotype(s) retrieved from Orphanet

    Total: 15

HPO ID Term Frequency
HP:0002657 Spondylometaphyseal dysplasia Very frequent (99-80%)
HP:0002757 Recurrent fractures Very frequent (99-80%)
HP:0002812 Coxa vara Very frequent (99-80%)
HP:0002983 Micromelia Very frequent (99-80%)
HP:0003019 Abnormality of the wrist Very frequent (99-80%)
HP:0003025 Metaphyseal irregularity Very frequent (99-80%)
HP:0003300 Ovoid vertebral bodies Very frequent (99-80%)
HP:0003311 Hypoplasia of the odontoid process Very frequent (99-80%)
HP:0003502 Mild short stature Very frequent (99-80%)
HP:0003307 Hyperlordosis Frequent (79-30%)
HP:0001636 Tetralogy of Fallot Occasional (29-5%)
HP:0001763 Pes planus Occasional (29-5%)
HP:0002650 Scoliosis Occasional (29-5%)
HP:0002808 Kyphosis Occasional (29-5%)
HP:0002857 Genu valgum Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 1

HPO ID Term # of case reports
HP:0002652 Skeletal dysplasia 1


Causative gene(s) retrieved from Orphanet

    Total: 2

Gene Symbol Gene Name Entrez Gene ID
COL2A1 collagen type II alpha 1 chain 1280
FN1 fibronectin 1 2335