Cornelia de Lange Syndrome

What is Cornelia de Lange syndrome?

Cornelia de Lange syndrome is a developmental disorder that affects many parts of the body. The condition is characterised by distinctive facial features (including thin, arched eyebrows and a small, upturned nose), slow growth before and after birth, mental retardation, abnormalities involving the arms and hands, excessive body hair (hirsutism), heart defects, and problems with the gastrointestinal tract. Other common signs and symptoms include an opening in the roof of the mouth (a cleft palate), hearing loss, eye problems, and skeletal abnormalities. The features of Cornelia de Lange syndrome vary widely among affected individuals.

How common is Cornelia de Lange syndrome?

Although the exact incidence is unknown, Cornelia de Lange syndrome likely affects 1 in 10,000-30,000 newborns.

What genes are related to Cornelia de Lange syndrome?

Mutations in the NIPBL gene cause Cornelia de Lange syndrome.

The NIPBL gene provides instructions for making a protein called delangin, which appears to play an essential role in directing development before birth. Delangin regulates the activity of other genes in the developing limbs, face, and other parts of the body. NIPBL mutations lead to the production of an abnormal or nonfunctional version of this protein. These changes disrupt normal development, leading to the varied signs and symptoms of Cornelia de Lange syndrome.

Mutations in the NIPBL gene have been identified in about half of cases of Cornelia de Lange syndrome. Researchers are looking for additional changes in this gene as well as other genes that may be responsible for this disorder.

How do people inherit Cornelia de Lange syndrome?

This condition is thought to be inherited in an autosomal dominant pattern, which means one copy of the altered gene is sufficient to cause the disorder. Almost all cases result from new mutations in the gene and occur in people with no history of the disorder in their family.

What other names do people use for Cornelia de Lange syndrome?

• BDLS
• Brachmann-De Lange Syndrome
• CDLS
• De Lange Syndrome