Cornelia-de-Lange syndrome (CdLS) is a rare genetic disorder that is generally apparent at birth (congenital). Other signs and symptoms that are often present are slow physical growth before and after birth (prenatal and postnatal growth retardation); abnormalities of the head and facial area (craniofacial), which give the face a unique look; hand and arm malformations (upper limbs); and mild to severe intellectual disability.

Many infants and children with the disorder have an unusually small, short head (microbrachycephaly); a prominent vertical groove between the upper lip and nose (philtrum); a depressed nasal bridge; upturned nostrils (anteverted nares); and a small chin (micrognathia). Additional characteristic facial abnormalities may include thin, downturned lips; low-set ears; arched, well-defined eyebrows that grow together across the base of the nose (synophrys); an unusually low hairline on the forehead and the back of the neck; and curly, unusually long eyelashes.

Affected individuals may also have distinctive malformations of the limbs, such as unusually small hands and feet, inward deviation (clinodactyly) of the fifth fingers, and webbing (syndactyly) of certain toes. Less commonly, there may be an absence of the forearms, hands, and fingers. Infants with CdLS may also have feeding and breathing difficulties; an increased susceptibility to respiratory infections; a low-pitched “growling” cry and low voice; heart defects; delayed skeletal maturation; hearing loss; or other physical abnormalities. The range and severity of associated symptoms and findings may be extremely variable from person to person.

The exact incidence is unknown but CdLS possibly affects 1 in 10,000 to 30,000 newborns. It is probably underdiagnosed, as individuals with mild features may never be diagnosed.

CdLS can be inherited as an autosomal dominant condition or an X-linked condition. Seven genes have been found to be associated with CdLS so far (NIPBL, SMC1A, SMC3, RAD21, HDAC8, ANKRD11, BRD4). Most affected individuals have an abnormal gene as a result of a new gene mutation and do not have an affected parent. Other genes may be found to be associated with CdLS in the future.

We are here for you.

Dr. Chayim Schell-Apacik is a specialist in clinical genetics with over three decades of experience in supporting patients. We offer individualised evaluations, genetic consultation, and testing, with the goal of providing you with genetic information that presents choices and minimises uncertainty, empowering you to make decisions that are most beneficial for you. Please contact us, to find out more.

What is genetic testing?

Genetic testing – sometimes called genomic testing, finds changes in the genetic material that can cause health problems. It is mainly used to diagnose rare and inherited health conditions and some cancers.
You may be offered a genetic test because your doctor thinks

• you or your child might have a health condition caused by a change in the genetic material involving one or more genes or certain chromosomes.
• someone in your family has a health condition that is caused by changes in the genetic material involving one or more genes, or certain chromosomes.
• some of your close relatives have had a particular type of cancer that could be inherited.

At Schell Genetics, we are here to assist you in this process. Please don’t hesitate to contact us.