Cornelia de Lange Syndrome

Gene Mutation

In The US: 1 in 10,000 births.

Also Called:
Lange Syndrome, Brachmann Syndrome, Brachmann-Lange Syndrome, Degenerativus, or Amersterdam Dwarf Syndrome

Genetics Home Reference




Cornelia de Lange Syndrome is caused by several different gene mutations that are thought to be sporadic and typically not predictably inherited. It causes a wide range of characteristics, appearing to stem from one basic problem- the effect of the mutation on cohesion, a protein that controls and stabilizes chromosome segregation in cell cycles.

Those with CdLS often share facial features including bushy eyebrows that meet in the middle, long eyelashes, a short, upturned nose, and thin, downturned lips. Physical ailments can include mental impairment, small stature, gastro-esophageal reflux disease, heart defects, malformed hands and feet, seizures, vision problems, hearing loss, and disproportionate or even missing limbs.

CdLS is separated into two categories: Type 1 is the classical presentation and Type 2 is a mild form. With the proper treatments that target critical symptoms and any necessary support, people with Cornelia de Lange Syndrome can easily live a happy life into adulthood.

Cornelia de Lange Syndrome In The News

Pathways in Cornelia de Lange Syndrome Open New Possibilities

Read More    published: 05/09/2015

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