Heart-hand syndrome, Spanish type

Heart-hand syndrome, Spanish type, also known as heart-hand syndrome type 3 or III, is a very rare genetic disorder which is characterized by heart, hand, and sometimes feet abnormalities. It is a type of heart-hand syndrome, a class of genetic disorders characterized by cardiac malformations and hand malformations. Only one family with the disorder has been reported in medical literature.

Description

People with this disorder have symptoms that affect the heart, hands and feet. These include:

Heart

Sick sinus
Bundle branch block

Hands

Brachydactyly which resembles brachydactyly type C
Abnormal development of the middle phalanges of the fingers
Accessory ossicle on the proximal phalange of the index finger.

Feet

Subtle feet anomalies such as syndactyly

Etymology

This condition was first discovered by Ruiz de la Fuente et al., when they described a three-generation family from Spain with the symptoms mentioned above. The cardiac defects varied between family members; three members had intraventicular conduction defects and one had a sick sinus. In this family, the second and fifth fingers were the most severely affected out of all the fingers. Autosomal dominant inheritance was suspected.