Cornelia de Lange syndrome Dr Trisha Macnair Cornelia de Lange syndrome (CdLS) encompasses characteristic physical features, developmental abnormalities and learning difficulties. This rare condition causes a range of mild to severe symptoms.

In this article

What are the symptoms? Who's affected?

What's the treatment? Advice and support

Children with CdLS are small at birth and remain small for their age. They're slow learners, although this varies from mild to severe. Most also have limb abnormalities, ranging from small arms to the complete absence of forearms.

Facial features include hirsutism (hairiness), thin eyebrows that often meet in the middle, long eyelashes, low-set ears, widely spaced teeth, a short upturned nose and down-turned lips. Fits (seizures) are a common problem.

It's estimated that between one in 40,000 and one in 100,000 newborns are affected.

Mutations in the NIPBL, SMC1A and SMC3 genes cause the syndrome. NIPBL gene mutations are the most common cause. This gene is responsible for producing delangin, a protein involved in directing development before birth.

Mutations in this gene result in abnormal or non-functioning versions of this protein and, consequently, the characteristic signs of CdLS.

Almost all cases occur in people with no family history of the condition, and result from new mutations of the specific genes.

There's no cure, but medical procedures and therapies can often help with the symptoms. No antenatal test is available.

It's possible to test for the syndrome antenatally, with specialist blood tests and ultrasound scanning.

Cornelia de Lange Syndrome Foundation

Tel: 01375 376439
Email: info@cdls.org.uk
Website: www.cdls.org.uk

This article was last medically reviewed by Dr Rob Hicks in January 2008