Cornelia de Lange Syndrome synonyms
What other names are the Cornelia de Lange Syndrome known by? Synonyms and other terms with which Cornelia de Lange Syndrome is known.
Cornelia de Lange Syndrome (CdLS) is a rare genetic disorder that affects multiple body systems. It is also known by several other names, including Brachmann-de Lange Syndrome, Amsterdam dwarfism, and De Lange syndrome.
Cornelia de Lange Syndrome is named after the Dutch pediatrician who first described the condition in 1933, Dr. Cornelia Catharina de Lange. The syndrome is characterized by a range of physical, cognitive, and developmental abnormalities.
Individuals with Cornelia de Lange Syndrome often exhibit distinctive facial features, such as thin eyebrows that meet in the middle, long eyelashes, a small upturned nose, and a thin upper lip. They may also have limb abnormalities, such as small hands and feet, and skeletal anomalies.
Brachmann-de Lange Syndrome is another term used to describe this condition, named after the German pediatrician Dr. Wilhelm Brachmann, who independently reported cases of the syndrome in 1916. The term emphasizes the collaboration between Dr. de Lange and Dr. Brachmann in understanding and defining the disorder.
Amsterdam dwarfism is a historical term that was used to describe CdLS due to the short stature often observed in affected individuals. However, it is important to note that not all individuals with CdLS have dwarfism, and the term is no longer commonly used.
De Lange syndrome is a more general term that refers to the condition without specifying the individuals who first described it. It is sometimes used interchangeably with Cornelia de Lange Syndrome.
Overall, these various synonyms highlight the historical and medical significance of Cornelia de Lange Syndrome. While the names may differ, they all refer to the same rare genetic disorder characterized by distinct physical features and developmental challenges.
