Heart-hand syndrome, Spanish type explained

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]

Description

People with this disorder have symptoms that affect the heart, hands and feet. These include:[4] [5] [6]

Heart

Hands

Feet

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.[7]

Notes and References

  1. Web site: Heart-hand syndrome, Spanish type .
  2. Web site: RESERVED . INSERM US14-- ALL RIGHTS . Orphanet: Heart hand syndrome type 3 . 2022-05-26 . www.orpha.net . en.
  3. Web site: OMIM Entry – 140450 - HEART-HAND SYNDROME, SPANISH TYPE . 2022-05-26 . omim.org . en-us.
  4. Ruiz de la Fuente . S. . Prieto . F. . 1980-07-01 . Heart-hand syndrome . Human Genetics . en . 55 . 1 . 43–47 . 10.1007/BF00329125 . 7450756 . 20143276 . 1432-1203.
  5. Web site: Heart-hand syndrome, Spanish type - About the Disease - Genetic and Rare Diseases Information Center . 2022-05-26 . rarediseases.info.nih.gov . en.
  6. Web site: Heart-Hand Syndrome, Spanish type . 2022-05-26 . DoveMed . en.
  7. Ruiz de la Fuente . S. . Prieto . F. . 1980 . Heart-hand syndrome. III. A new syndrome in three generations . Human Genetics . 55 . 1 . 43–47 . 10.1007/BF00329125 . 0340-6717 . 7450756. 20143276 .