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Синдром серце-рука, тип 3

ORPHA:1342· ICD-10 Q87.2· Heart-hand syndrome type 3

Визначення(English summary)

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.

Поширеність
<1 / 1 000 000
Вік початку
Neonatal