Spondyloepimetaphyseal dysplasia, Missouri type

Spondyloepimetaphyseal dysplasia, Missouri type is characterized by moderate-to-severe metaphyseal changes, mild epiphyseal involvement, rhizomelic shortening of the lower limbs with bowing of the femora and/or tibiae, coxa vara, genu varum and pear-shaped vertebrae in childhood.



Input patient's signs and symptoms


Narrow down the case reports



Total: 0 (papers)
  


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

Phenotype(s) retrieved from Orphanet

    Total: 13

HPO ID Term Frequency
HP:0000944 Abnormality of the metaphysis Very frequent (99-80%)
HP:0002651 Spondyloepimetaphyseal dysplasia Very frequent (99-80%)
HP:0002652 Skeletal dysplasia Very frequent (99-80%)
HP:0002980 Femoral bowing Very frequent (99-80%)
HP:0002982 Tibial bowing Very frequent (99-80%)
HP:0004566 Pear-shaped vertebrae Very frequent (99-80%)
HP:0005930 Abnormality of epiphysis morphology Very frequent (99-80%)
HP:0002758 Osteoarthritis Frequent (79-30%)
HP:0002812 Coxa vara Frequent (79-30%)
HP:0002970 Genu varum Frequent (79-30%)
HP:0004322 Short stature Frequent (79-30%)
HP:0006385 Short lower limbs Frequent (79-30%)
HP:0001376 Limitation of joint mobility 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
MMP13 matrix metallopeptidase 13 4322