Cornelia de Lange syndrome (CdLS) is a genetic disorder that affects many organs, leading to various clinical presentations.
Based on the provided reference, Cornelia de Lange syndrome (CdLS) was initially described in 1933. It is classified as a rare genetic disorder that impacts multiple organ systems within the body.
Understanding CdLS
CdLS is characterized by a wide range of physical, intellectual, and behavioral challenges. The severity of these features can vary significantly from one individual to another. The genetic changes responsible for CdLS primarily affect the development of various parts of the body before birth and throughout life.
Typical Features of CdLS
According to the reference, individuals with CdLS often present with several characteristic features. These can include:
- Restricted Growth: Individuals with CdLS typically experience slower growth both before and after birth, resulting in short stature.
- Intellectual Disability: Most individuals with CdLS have some degree of intellectual disability, ranging from mild to severe.
- Craniofacial Abnormalities: Specific facial features are common, such as thin, arched eyebrows that meet in the middle (synophrys), long eyelashes, a short nose with a broad tip, a thin upper lip, and down-turned corners of the mouth.
- Hirsutism: Excess body hair is a frequent finding.
Why "Genetic Disorder"?
Being a genetic disorder means that CdLS is caused by changes in specific genes. These gene changes disrupt normal development and function, leading to the wide array of symptoms seen in affected individuals. Because it's genetic, it can sometimes run in families, although many cases occur spontaneously.
In summary, Cornelia de Lange syndrome is a complex condition with a range of physical and developmental characteristics, originating from genetic alterations and affecting various body systems.
