Dahlberg-Borer-Newcomer syndrome

Dahlberg-Borer-Newcomer syndrome is a very rare ectodermal dysplasia syndrome, described in 2 adult brothers, characterized by the association of hypoparathyroidism, nephropathy, congenital lymphedema, mitral valve prolapse and brachytelephalangy. Additional features include mild facial dysmorphism, hyperthricoses, and nail abnormalities.



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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:0000112 Nephropathy Very frequent (99-80%)
HP:0000431 Wide nasal bridge Very frequent (99-80%)
HP:0000506 Telecanthus Very frequent (99-80%)
HP:0000821 Hypothyroidism Very frequent (99-80%)
HP:0000829 Hypoparathyroidism Very frequent (99-80%)
HP:0000966 Hypohidrosis Very frequent (99-80%)
HP:0001004 Lymphedema Very frequent (99-80%)
HP:0001072 Thickened skin Very frequent (99-80%)
HP:0001156 Brachydactyly Very frequent (99-80%)
HP:0001634 Mitral valve prolapse Very frequent (99-80%)
HP:0001798 Anonychia Very frequent (99-80%)
HP:0002230 Generalized hirsutism Very frequent (99-80%)
HP:0002901 Hypocalcemia Very frequent (99-80%)
HP:0004322 Short stature Very frequent (99-80%)
HP:0009882 Short distal phalanx of finger Very frequent (99-80%)
HP:0000518 Cataract Frequent (79-30%)
HP:0000083 Renal insufficiency 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