Cornelia De Lange Syndrome 1 (CDLS1)
Cornelia De Lange Syndrome 1 (CDLS1)
OMIM number: 122470
Comments closing date: 29/08/2025
Cornelia de Lange Syndrome (CdLS) is a rare
genetic condition that has a spectrum from mild to
severe. This application is for Conelia de Lange
Syndrome Type 1 which is caused by an alteration
in a gene called NIPBL. The majority of people
with CdLS due to a change in the NIPBL gene
have ‘classic’ type CdLS. Classic CdLS is a
severe disorder that causes severe to profound
intellectual disability in the majority of affected
people. This means that they are often unable to
walk and talk and need very significant levels of
life-long care and are unable to live independently.
Most have hearing impairment which is profound
in 40%. Severe upper limb abnormalities are seen
in about 25% including complete absence of the
limbs, absent forearms and absent hands. 30%
have congenital heart abnormalities. 25% have
epilepsy. Most have different facial features,
dental problems and increased body hair. Sleep
difficulties and behavioural problems are common;
over half have self-injurious behaviour. The
majority have growth failure that starts before birth
and continues through life. Other abnormalities
seen include kidney abnormalities, cleft palate,
diaphragmatic hernia (where the abdominal
organs can move into the chest cavity and leave
insufficient space for the lungs to develop
properly). Life expectancy is not reduced in many,
but some people die prematurely, including in
infancy, in particular from, heart abnormalities,
diaphragmatic hernia or increased susceptibility to
infection.
Review date: 25 July 2027
