Corneodermatoosseous syndrome

A rare, genetic, ectodermal dysplasia syndrome characterized by corneal epithelial changes (ranging from roughening to nodular irregularities), diffuse palmoplantar hyperkertosis with thickened, erythematous, scaly lesions affecting the elbows, knees and knuckles, distal onycholysis, brachydactyly accompanied by a single transverse palmar crease, short stature, premature birth, and increased susceptibility to tooth decay. Ocular symptoms include photophobia, reduced night vision, burning and watery eyes, and varying visual acuity. There have been no further descriptions in the literature since 1984.



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

Phenotype(s) retrieved from Orphanet

    Total: 20

HPO ID Term Frequency
HP:0000613 Photophobia Very frequent (99-80%)
HP:0000670 Carious teeth Very frequent (99-80%)
HP:0000682 Abnormality of dental enamel Very frequent (99-80%)
HP:0000982 Palmoplantar keratoderma Very frequent (99-80%)
HP:0001072 Thickened skin Very frequent (99-80%)
HP:0001131 Corneal dystrophy Very frequent (99-80%)
HP:0001156 Brachydactyly Very frequent (99-80%)
HP:0001817 Absent fingernail Very frequent (99-80%)
HP:0003510 Severe short stature Very frequent (99-80%)
HP:0004279 Short palm Very frequent (99-80%)
HP:0000230 Gingivitis Frequent (79-30%)
HP:0001155 Abnormality of the hand Frequent (79-30%)
HP:0001163 Abnormality of the metacarpal bones Frequent (79-30%)
HP:0001167 Abnormality of finger Frequent (79-30%)
HP:0001231 Abnormal fingernail morphology Frequent (79-30%)
HP:0001622 Premature birth Frequent (79-30%)
HP:0010783 Erythema Frequent (79-30%)
HP:0000365 Hearing impairment Occasional (29-5%)
HP:0000662 Nyctalopia Occasional (29-5%)
HP:0012047 Hemeralopia Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 0

HPO ID Term # of case reports


Causative gene(s) retrieved from Orphanet

    Total: 0

Gene Symbol Gene Name Entrez Gene ID