Heart-hand syndrome type 3

Orpha code: 1342OMIM code: 140450

Definicja

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.

Disease data
Klasyfikacja

Malformation syndrome

Synonimy
Atriodigital dysplasia type 3
Dysplazja przedsionkowo-palcowa typu 3
Zespół serce-kończyna typu 3
Zespół serce-ręka, typ hiszpański
Cardiomelic syndrome type 3
Heart-hand syndrome, Spanish type
Heart-limb syndrome type 3
Kod ORPHA
1342
Kod OMIM
140450
Kod ICD10
Q87.2
Kod ICD11
LD2F.1Y

No additional description.

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