Metaphyseal chondrodysplasia, Spahr type

A rare, genetic, primary bone dysplasia disease characterized by usually moderate, postnatal short stature, progressive genu vara deformity, a waddling gait, and radiological signs of metaphyseal dysplasia (i.e. irregular, sclerotic and widened metaphyses), in the absence of biochemical abnormalities suggestive of rickets disease. Intermittent knee pain, lordosis, and delayed motor development may also occasionally be associated.



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Total: 0 (papers)
  


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

Phenotype(s) retrieved from Orphanet

    Total: 17

HPO ID Term Frequency
HP:0000944 Abnormality of the metaphysis Very frequent (99-80%)
HP:0001288 Gait disturbance Very frequent (99-80%)
HP:0001385 Hip dysplasia Very frequent (99-80%)
HP:0002750 Delayed skeletal maturation Very frequent (99-80%)
HP:0002970 Genu varum Very frequent (99-80%)
HP:0003307 Hyperlordosis Very frequent (99-80%)
HP:0003498 Disproportionate short stature Very frequent (99-80%)
HP:0004349 Reduced bone mineral density Very frequent (99-80%)
HP:0005871 Metaphyseal chondrodysplasia Very frequent (99-80%)
HP:0006385 Short lower limbs Very frequent (99-80%)
HP:0006409 Progressive leg bowing Very frequent (99-80%)
HP:0006487 Bowing of the long bones Very frequent (99-80%)
HP:0100255 Metaphyseal dysplasia Very frequent (99-80%)
HP:0000164 Abnormality of the dentition Frequent (79-30%)
HP:0000670 Carious teeth Frequent (79-30%)
HP:0002650 Scoliosis Frequent (79-30%)
HP:0005930 Abnormality of epiphysis morphology Frequent (79-30%)


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