Cornelia de Lange syndrome

Cornelia de Lange syndrome is a genetic developmental disorder that can affect growth, limb formation, cognition, and multiple organ systems. It is associated with characteristic facial features and changes in genes involved in cohesin function.

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Cohesin: A protein complex that organizes chromosomes and helps regulate gene expression, DNA repair, and chromosome segregation. Many Cornelia de Lange syndrome genes encode cohesin components or proteins that regulate the complex.
Autosomal dominant inheritance: An inheritance pattern in which one altered gene copy can cause a trait or disorder. Most established Cornelia de Lange syndrome gene variants act dominantly, often arising de novo.
Clinical genetics: The medical specialty that diagnoses and manages disorders caused or influenced by genetic variation. Clinical geneticists assess syndrome features, family history, and test results together.
Winfried Brachmann: A German physician who described a child with features later associated with Cornelia de Lange syndrome in 1916. His report preceded de Lange’s independent description and helped establish the syndrome’s history.
Kabuki syndrome: A genetic developmental disorder associated with distinctive facial features, growth differences, and variable congenital anomalies. Its facial and developmental features can overlap with Cornelia de Lange syndrome.
NIPBL: A gene encoding a protein that loads cohesin onto chromosomes and supports its functions. Pathogenic NIPBL variants are the most common known cause of the syndrome.
De novo mutation: A genetic change first arising in an individual rather than inherited from a parent. Many affected individuals have a variant absent from both parents.
Genetic testing: Laboratory analysis of DNA or chromosomes to identify genetic variants relevant to health. Testing can confirm a suspected diagnosis and identify a causal variant in many cases.
Cornelia de Lange: A Dutch pediatrician who described the syndrome in 1933 after observing two affected children. Her detailed clinical account gave the disorder its name.
CHARGE syndrome: A congenital disorder involving combinations of coloboma, heart defects, choanal atresia, growth issues, and other anomalies. Overlapping congenital and developmental findings can make distinction clinically relevant.