Brachydactyly type A5

Brachydactyly type A5 (BDA5) is a very rare congenital malformation of the digits characterized by absence of the middle phalanges (usually of digits 2 to 5), nail dysplasia and duplicated terminal phalanx of the thumb.



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

Phenotype(s) retrieved from Orphanet

    Total: 10

HPO ID Term Frequency
HP:0001163 Abnormality of the metacarpal bones Very frequent (99-80%)
HP:0002164 Nail dysplasia Very frequent (99-80%)
HP:0005819 Short middle phalanx of finger Very frequent (99-80%)
HP:0009606 Complete duplication of distal phalanx of the thumb Very frequent (99-80%)
HP:0009623 Proximal placement of thumb Very frequent (99-80%)
HP:0005048 Synostosis of carpal bones Occasional (29-5%)
HP:0006101 Finger syndactyly Occasional (29-5%)
HP:0009773 Symphalangism affecting the phalanges of the hand Occasional (29-5%)
HP:0010059 Broad hallux phalanx Occasional (29-5%)
HP:0011304 Broad thumb 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