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.

Heart-hand syndrome, Spanish type
Other names	Heart hand syndrome type 3 (or III), brachydactyly and intraventricular conduction defect, upper limb malformations and congenital cardiac anomalies.
Specialty	Medical genetics
Symptoms	Heart and hand anomalies
Usual 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
Diagnostic method	Physical examination, Radiography
Prevention	none
Prognosis	Ok
Frequency	very rare, only 1 family has ever been recorded in medical literature
Deaths	-

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

Etimology

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.