Heart-hand syndrome, Spanish type | |
Synonyms: | Heart hand syndrome type 3 (or III), brachydactyly and intraventricular conduction defect, upper limb malformations and congenital cardiac anomalies.[1] |
Symptoms: | Heart and hand anomalies |
Onset: | Conception |
Duration: | Life-long |
Types: | This is a type of heart hand syndrome, and doesn't have any subtypes itself. |
Causes: | Autosomal dominant inheritance |
Prevention: | none |
Prognosis: | Ok |
Frequency: | very rare, only 1 family has ever been recorded in medical literature |
Deaths: | - |
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,[2] a class of genetic disorders characterized by cardiac malformations and hand malformations. Only one family with the disorder has been reported in medical literature.[3]
People with this disorder have symptoms that affect the heart, hands and feet. These include:[4] [5] [6]
This condition was first discovered by Ruiz de la Fuente et al., when they described a 3-generation family from Spain with the symptoms mentioned above. The cardiac defects varied between family members; 3 members had intraventicular conduction defects and 1 had a sick sinus. In this family, the 2nd and 5th fingers were the most severely affected out of all the fingers. Autosomal dominant inheritance was suspected.[7]