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Heart-hand syndrome, Spanish type

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(Redirected from Heart hand syndrome Spanish type) Medical condition
Heart-hand syndrome, Spanish type
Other namesHeart hand syndrome type 3 (or III), brachydactyly and intraventricular conduction defect, upper limb malformations and congenital cardiac anomalies.
SpecialtyMedical genetics
SymptomsHeart and hand anomalies
Usual onsetConception
DurationLife-long
TypesThis is a type of heart hand syndrome, and doesn't have any subtypes itself.
CausesAutosomal dominant inheritance
Diagnostic methodPhysical examination, Radiography
Preventionnone
PrognosisOk
Frequencyvery 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, 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

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.

References

  1. "Heart-hand syndrome, Spanish type".
  2. RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Heart hand syndrome type 3". www.orpha.net. Retrieved 2022-05-26.{{cite web}}: CS1 maint: numeric names: authors list (link)
  3. "OMIM Entry – 140450 - HEART-HAND SYNDROME, SPANISH TYPE". omim.org. Retrieved 2022-05-26.
  4. Ruiz de la Fuente, S.; Prieto, F. (1980-07-01). "Heart-hand syndrome". Human Genetics. 55 (1): 43–47. doi:10.1007/BF00329125. ISSN 1432-1203. PMID 7450756. S2CID 20143276.
  5. "Heart-hand syndrome, Spanish type - About the Disease - Genetic and Rare Diseases Information Center". rarediseases.info.nih.gov. Retrieved 2022-05-26.
  6. "Heart-Hand Syndrome, Spanish type". DoveMed. Retrieved 2022-05-26.
  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. doi:10.1007/BF00329125. ISSN 0340-6717. PMID 7450756. S2CID 20143276.
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