Heart-hand syndrome type 3 is a very rare heart-hand syndrome (see this term), described in three members of a Spanish family to date, which is characterized by a cardiac conduction defect (sick sinus, bundle-branch block) and brachydactyly, resembling brachydactyly type C of the hands (see this term), affecting principally the middle phalanges in conjunction with an extra ossicle on the proximal phalanx of both index fingers. Feet abnormalities are more subtle.
Matched Phenotype
Gene
Mutation
MeSH
Rank
(Similarity) |
PMID
(PMCID) |
Phenotype(s) retrieved from Orphanet
Total: 6
| HPO ID |
Term |
Frequency |
| HP:0001156 |
Brachydactyly |
Very frequent (99-80%) |
| HP:0001163 |
Abnormality of the metacarpal bones |
Very frequent (99-80%) |
| HP:0005819 |
Short middle phalanx of finger |
Very frequent (99-80%) |
| HP:0011704 |
Sick sinus syndrome |
Very frequent (99-80%) |
| HP:0011710 |
Bundle branch block |
Very frequent (99-80%) |
| HP:0001831 |
Short toe |
Frequent (79-30%) |
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 |
