Klippel Syndrome

Klippel-Trenaunay syndrome (Klippel-Trenaunay-Weber syndrome, Treves-Webb, French version of the name T. Clipart), or craniofacial dysostosis is a hereditary disease characterized by a triad of cranial malformations (syndactyly of the hand and foot, bigentile face and damage to the nervous system in the form hemiplegia or hemibatianesthesia), which develops as a result of chromosome polysomy (identical chromosomes, of which a person has five pairs), which is a consequence of mutation. There was an error in the question. The word “vertebral” is missing in the spelling of the term, correctly “Klippel-Trenaunay-Boerhaave (Kirschbaum-Geppe) syndrome”

Klippel-Trenaunay-Boerhaave, craniofacial dysplasia

First allocated

Klippel syndrome is a rare hereditary disease associated with a congenital disorder of the development and functioning of various organs and systems. The disease was first described in the 19th century by the French neurologist Germain Maurice Copnot Klippel. Klippel syndrome can manifest itself in a variety of disorders, including pathologies of the heart, liver, kidneys, lungs, blood, skin and bones.

The main symptoms of Klippel syndrome include:

1. Anomalies of the heart and blood vessels: heart failure, changes in the size and shape of the heart, aneurysm and other vascular abnormalities.

2. Disorders in the development of the limbs: lengthening or shortening of the limbs, changes in the shape and direction of bone growth, improper formation of joints and ligaments.

3. Deformations of skeletal bones: disruption of the shape of bones due to their rapid growth and tissue proliferation, which leads to significant changes in physique.

4. Liver pathology: increase or decrease in liver size, abnormal position and shape of the organ