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Heart-hand syndrome, Spanish type

From Wikipedia, the free encyclopedia
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.[1]
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,[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

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

Heart

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  • Sick sinus
  • Bundle branch block

Hands

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  • 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

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Etimology

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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]

References

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  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.