Brachydactyly type A4

Brachydactyly type A4 (BDA4) is a congenital malformation characterized by brachymesophalangy affecting mainly the 2nd and the 5th digit.



Input patient's signs and symptoms


Narrow down the case reports



Total: 1 (papers)

   


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(35.3%)		 8510402
 [Brachydactyly type A4 (brachymesophalangia II and V, Temtamy type). A rare type of brachydactyly].
Reichenbach H, Hormann D, Theile H.
Kinderarztl Prax. 1993;61(2):59-62.
Brachydactyly
Bone Diseases, Developmental Females Fingers Hallux Valgus Homo sapiens Male Phenotype Pregnancy Toes
        

Phenotype(s) retrieved from Orphanet

    Total: 6

HPO ID Term Frequency
HP:0004220 Short middle phalanx of the 5th finger Very frequent (99-80%)
HP:0006239 Shortening of all middle phalanges of the toes Very frequent (99-80%)
HP:0009577 Short middle phalanx of the 2nd finger Very frequent (99-80%)
HP:0004322 Short stature Frequent (79-30%)
HP:0009773 Symphalangism affecting the phalanges of the hand Frequent (79-30%)
HP:0001762 Talipes equinovarus Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 1

HPO ID Term # of case reports
HP:0001156 Brachydactyly 1


Causative gene(s) retrieved from Orphanet

    Total: 0

Gene Symbol Gene Name Entrez Gene ID