Spondylometaphyseal dysplasia, Schmidt type

Spondylometaphyseal dysplasia, Schmidt type is characterized by short stature, myopia, ,small pelvis, progressive kypho-scoliosis, wrist deformity, severe genu valgum, short long bones, and severe metaphyseal dysplasia with moderate spinal changes and minimal changes in the hands and feet.



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Total: 1 (papers)

   


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Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(21.2%)		 23653587
 COL2A1 Mutation in Spondylometaphyseal Dysplasia Algerian Type.
Matsubayashi S, Ikema M, Ninomiya Y, Yamaguchi K, Ikegawa S, Nishimura G.
Mol Syndromol. 2013;4(3):148-51.
Skeletal dysplasia
COL2A1
c|SUB|G|2582|T p|SUB|G|861|V
        

Phenotype(s) retrieved from Orphanet

    Total: 12

HPO ID Term Frequency
HP:0000545 Myopia Very frequent (99-80%)
HP:0002657 Spondylometaphyseal dysplasia Very frequent (99-80%)
HP:0002751 Kyphoscoliosis Very frequent (99-80%)
HP:0002857 Genu valgum Very frequent (99-80%)
HP:0002983 Micromelia Very frequent (99-80%)
HP:0003019 Abnormality of the wrist Very frequent (99-80%)
HP:0003026 Short long bone Very frequent (99-80%)
HP:0004322 Short stature Very frequent (99-80%)
HP:0100255 Metaphyseal dysplasia Very frequent (99-80%)
HP:0000926 Platyspondyly Frequent (79-30%)
HP:0001373 Joint dislocation Frequent (79-30%)
HP:0008839 Hypoplastic pelvis 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
COL2A1 collagen type II alpha 1 chain 1280