heart-hand syndrome type 3
Heart-hand syndrome type 3 is a very rare heart-hand syndrome, 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, affecting principally the middle phalanges in conjunction with an extra ossicle on the proximal phalanx of both index fingers. Feet abnormalities are more subtle. [ ]
Term info
heart-hand syndrome type 3
- Cardiomelic syndrome type 3
- atriodigital dysplasia type 3
- heart-hand syndrome, Spanish type
- heart-limb syndrome type 3
ordo_malformation_syndrome
http://identifiers.org/mesh/C535853, http://purl.obolibrary.org/obo/Orphanet_1342, http://linkedlifedata.com/resource/umls/id/C1841657, https://omim.org/entry/140450, http://identifiers.org/snomedct/721013001
upper limb malformations and congenital cardiac anomalies, brachydactyly and intraventricular conduction defect
MONDO:0007702
https://icd.codes/icd10cm/Q87.2