Cornelia de Lange Syndrome

Category:
Gene Mutation

Prevalence:
In The US: 1 in 10,000 births.

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

Resources:
Genetics Home Reference

WebMD

 

Donate

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

Cornelia de Lange Syndrome Comments

Leave a New Comment