What is CdLS?

Cornelia de Lange Syndrome (CdLS) is a congenital syndrome (condition present from birth) that affects roughly 1 in 10,000 children. It is caused by a random genetic mutation (alteration in a gene). About 40% of affected individuals appear to have changes in a certain gene (NIPBL) on Chromosome 5; about 5% of patients have mutations on the SMC3 and SMC1A genes on the X-chromosome.

(We have since had another pregnancy since Ben’s birth; you can read about our experience with prenatal and genetic testing for CdLS here.)

People with CdLS often have similar physical features. Since current genetic testing for CdLS identifies only about half of affected individuals, most diagnoses are based on signs or symptoms present in the child. Not every child will have all of these signs, but Ben has most (but not all) of the following:

• Low birthweight (often less than 5 lbs)
• Small head size (microcephaly)
• Slow growth and short stature
• Thin arched eyebrows that meet in the middle
• Long, curly eyelashes
• Thin downturned lips
• Short upturned nose
• Developmental and speech delay
• Mental retardation (ranging from mild to profound)
• Gastroesophageal reflux and feeding difficulties (some children require feeding tubes)
• Hearing loss
• Visual impairment and ptosis
• Cleft palate
• Heart defects
• Structual abnormalities of the GI tract
• Abnormalities of the limbs (usually the arms and hands)
• Seizure disorder

In addition, there appears to be somewhat of a spectrum with CdLS; some children are very mildly affected, while others (like Ben) are on the more severe end.

To learn more about CdLS, please visit the CdLS Foundation Website (it’s where I found most of the information printed on this page!) and check out the FAQ.

For more technical/medical information please visit GeneReviews which goes into great detail about the syndrome itself and also the molecular genetics behind the syndrome. Or check out this article from OMIM. Not for the faint of heart! Better break out those biology texts!