Metaphyseal chondrodysplasia, Schmid type

Schmid metaphyseal chondrodysplasia is a rare disorder characterized by moderately short stature with short limbs, coxa vara, bowlegs and an abnormal gait.



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Narrow down the case reports



Total: 2 (papers)

  


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)
PMID
(PMCID)
1
(32.7%)
8644413
[Metaphyseal chondrodysplasia as differential diagnosis to rickets].
Dahl M, Birkebaek NH.
Ugeskr Laeger. 1996;158(12):1683-4.
Rickets Metaphyseal chondrodysplasia
Differential Diagnosis Females Homo sapiens Infant Osteochondrodysplasias Rickets
2
(30.2%)
2513336
Histological, biochemical, and MRI studies of the growth plate in congenital coxa vara.
Bos CF, Sakkers RJ, Bloem JL, vd Stadt RJ, vd Kamp JJ.
J Pediatr Orthop. 1989;9(6):660-5.
Coxa vara
Child, Preschool Hip Joint Homo sapiens Magnetic Resonance Imaging Male
        

Phenotype(s) retrieved from Orphanet

    Total: 18

HPO ID Term Frequency
HP:0000944 Abnormality of the metaphysis Very frequent (99-80%)
HP:0002812 Coxa vara Very frequent (99-80%)
HP:0002970 Genu varum Very frequent (99-80%)
HP:0006487 Bowing of the long bones Very frequent (99-80%)
HP:0008848 Moderately short stature Very frequent (99-80%)
HP:0009826 Limb undergrowth Very frequent (99-80%)
HP:0000347 Micrognathia Frequent (79-30%)
HP:0000365 Hearing impairment Frequent (79-30%)
HP:0001156 Brachydactyly Frequent (79-30%)
HP:0001363 Craniosynostosis Frequent (79-30%)
HP:0002007 Frontal bossing Frequent (79-30%)
HP:0003072 Hypercalcemia Frequent (79-30%)
HP:0004348 Abnormality of bone mineral density Frequent (79-30%)
HP:0005019 Diaphyseal thickening Frequent (79-30%)
HP:0000926 Platyspondyly Occasional (29-5%)
HP:0003301 Irregular vertebral endplates Occasional (29-5%)
HP:0005930 Abnormality of epiphysis morphology Occasional (29-5%)
HP:0008833 Irregular acetabular roof Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 1

HPO ID Term # of case reports
HP:0002748 Rickets 1


Causative gene(s) retrieved from Orphanet

    Total: 1

Gene Symbol Gene Name Entrez Gene ID
COL10A1 collagen type X alpha 1 chain 1300