Heart-hand syndromes

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Heart-hand syndromes

Heart-hand syndromes (pronunciation: /ˈhɑːrt hænd ˈsɪndroʊmz/) are a group of rare genetic disorders that primarily affect the heart and the limbs. The term "heart-hand" refers to the combination of heart disease and hand abnormalities that characterizes these conditions.

Etymology

The term "heart-hand" is derived from the primary symptoms of these syndromes, which involve the heart and the hands. The word "syndrome" comes from the Greek "σύνδρομον" (sýndromon), meaning "concurrence of symptoms".

Types

There are several types of heart-hand syndromes, including:

  • Holt-Oram syndrome: This is the most common type of heart-hand syndrome. It is characterized by abnormalities of the upper limbs and heart defects.
  • Tabatznik syndrome: This syndrome is characterized by short stature, heart defects, and abnormalities of the hands and feet.
  • Heart-hand syndrome, Slovenian type: This is a rare type of heart-hand syndrome that is characterized by abnormalities of the hands and feet, heart defects, and short stature.

Symptoms

The symptoms of heart-hand syndromes vary depending on the specific type of syndrome. However, common symptoms include:

Diagnosis

Diagnosis of heart-hand syndromes is based on the presence of characteristic symptoms and may be confirmed by genetic testing.

Treatment

Treatment for heart-hand syndromes is focused on managing the symptoms and may include surgery to correct heart defects or physical therapy to improve hand function.

See also

External links

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