Spondyloepimetaphyseal dysplasia congenita, Strudwick type

Spondyloepimetaphyseal dysplasia congenita, Strudwick type is characterized by disproportionate short stature from birth (with a very short trunk and shortened limbs) and skeletal abnormalities (lordosis, scoliosis, flattened vertebrae, pectus carinatum, coxa vara, clubfoot, and abnormal epiphyses or metaphyses).



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Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)
PMID
(PMCID)
        

Phenotype(s) retrieved from Orphanet

    Total: 25

HPO ID Term Frequency
HP:0000766 Abnormality of the sternum Very frequent (99-80%)
HP:0000926 Platyspondyly Very frequent (99-80%)
HP:0000944 Abnormality of the metaphysis Very frequent (99-80%)
HP:0002651 Spondyloepimetaphyseal dysplasia Very frequent (99-80%)
HP:0002983 Micromelia Very frequent (99-80%)
HP:0003307 Hyperlordosis Very frequent (99-80%)
HP:0003498 Disproportionate short stature Very frequent (99-80%)
HP:0005930 Abnormality of epiphysis morphology Very frequent (99-80%)
HP:0010306 Short thorax Very frequent (99-80%)
HP:0000175 Cleft palate Frequent (79-30%)
HP:0000316 Hypertelorism Frequent (79-30%)
HP:0000541 Retinal detachment Frequent (79-30%)
HP:0000545 Myopia Frequent (79-30%)
HP:0001288 Gait disturbance Frequent (79-30%)
HP:0002758 Osteoarthritis Frequent (79-30%)
HP:0002808 Kyphosis Frequent (79-30%)
HP:0002812 Coxa vara Frequent (79-30%)
HP:0002857 Genu valgum Frequent (79-30%)
HP:0012368 Flat face Frequent (79-30%)
HP:0100864 Short femoral neck Frequent (79-30%)
HP:0001762 Talipes equinovarus Occasional (29-5%)
HP:0002098 Respiratory distress Occasional (29-5%)
HP:0002650 Scoliosis Occasional (29-5%)
HP:0002970 Genu varum Occasional (29-5%)
HP:0003311 Hypoplasia of the odontoid process Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 0

HPO ID Term # of case reports


Causative gene(s) retrieved from Orphanet

    Total: 1

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