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Heart-hand syndrome type 3

Synonyms
Brachydactyly and intraventricular conduction defect; Heart-hand syndrome,Spanish type; Upper limb malformations and congenital cardiac anomalies

Summary

A very rare type of heart-hand syndrome described in three members of a Spanish family to date. The syndrome has characteristics of 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. [from SNOMEDCT_US]

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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