The question contains a misspelling. The correct term is Cornelia de Lange syndrome (CdLS). CdLS is a rare genetic disorder that affects multiple organ systems, resulting in a wide range of clinical features.
Understanding Cornelia de Lange Syndrome (CdLS)
CdLS, first described in 1933, is characterized by a combination of physical and developmental abnormalities.
Key Features of CdLS:
According to the reference information provided, the typical characteristics of CdLS include:
- Restricted Growth: Individuals with CdLS often experience slow growth, resulting in a smaller stature than expected.
- Intellectual Disability: Cognitive impairment is common, ranging from mild to severe.
- Craniofacial Abnormalities: Distinctive facial features are a hallmark of CdLS and can include:
- Arched eyebrows that meet in the middle (synophrys)
- A small, upturned nose
- A long philtrum (the area between the nose and upper lip)
- Thin lips
- Hirsutism: Excessive body hair growth.
Genetic Basis
CdLS is a genetic disorder, meaning it's caused by changes (mutations) in genes.
Diagnosis and Management
Diagnosis is typically based on clinical evaluation and genetic testing. Management involves a multidisciplinary approach to address the various health concerns associated with the syndrome.
