Multiple epiphyseal dysplasia, Beighton type

Multiple epiphyseal dysplasia, Beighton type is a skeletal dysplasia characterized by epiphyseal dysplasia (usually mild) associated with progressive myopia, retinal thinning, crenated cataracts, conductive deafness, and stubby digits.



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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: 11

HPO ID Term Frequency
HP:0000160 Narrow mouth Very frequent (99-80%)
HP:0000311 Round face Very frequent (99-80%)
HP:0000405 Conductive hearing impairment Very frequent (99-80%)
HP:0000545 Myopia Very frequent (99-80%)
HP:0001798 Anonychia Very frequent (99-80%)
HP:0002656 Epiphyseal dysplasia Very frequent (99-80%)
HP:0002857 Genu valgum Very frequent (99-80%)
HP:0004279 Short palm Very frequent (99-80%)
HP:0007973 Retinal dysplasia Very frequent (99-80%)
HP:0012368 Flat face Very frequent (99-80%)
HP:0000518 Cataract 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