The Center for Cornelia de Lange Syndrome and Related Diagnoses

Frequently Asked Questions

How many times will we visit?

If you live far away, likely one visit will be sufficient. After a complete evaluation we will provide a written plan to share with your regular pediatrician and specialists and encourage you to keep in touch by phone or e-mail and to visit again if necessary.

If you live nearby, we may see you and your child more frequently. We will work with you and your doctors to make sure care remains consistent and appropriate and is improving your child’s life.

What if we can’t travel to Philadelphia?

We strongly encourage a visit to the center here in Philadelphia. If this is not possible, we offer a “virtual consult.” We will request the same information as if you were coming in person and may interview you by phone. We will evaluate the information, offer our diagnostic impression, and answer any questions you may have about your child or the diagnosis in general.

May I bring my adult child to the center?

Of course! We have evaluated patients in their 30s and 40s. We will put together a plan for care regardless of age.

What is Cornelia de Lange syndrome?

Cornelia de Lange syndrome (CdLS) is a genetic condition present at birth and is characterized by numerous physical, intellectual and behavioral differences. Children with CdLS usually have low birth weight, are smaller in size and height and have a smaller head circumference (microcephaly). Most experience developmental delays that range from mild learning disabilities to profound mental retardation.

Common physical characteristics of CdLS include: similiar facial features (which may include an upturned nose, eyebrows that meet in the middle, long eyelashes and low-set ears); gastroesophageal reflux disease (GERD), which can make eating painful and contribute to slow growth and other intestinal differences; and upper limb differences ranging from small hands to missing fingers or forearms.

Cleft palate, diaphragmatic hernias, vision and hearing problems, excessive body hair (hirsutism), heart defects, seizures and dental issues are also common. Behavioral issues, such as self-injury or attention deficit hyperactivity disorder, might also be present. The syndrome takes its name from the Dutch pediatrician who was one of the first to formally describe it, in 1933. It occurs in an estimated 1 in 10,000 live births.

What causes CdLS?

To date there are several different genes that have been identified that result in CdLS when a change (mutation) occurs in one. There are still a small percentage of people with CdLS in whom a change in one of these genes cannot be identified; it is likely that additional causative genes have yet to be identified. In the majority of cases, the mutation is not inherited, but occurs spontaneously as a new (de novo) change in an egg or sperm or very early in fetal development.

A team at Children’s Hospital, led by Ian Krantz, MD, identified the first gene to cause CdLS when mutated. The gene is called NIPBL. Since that discovery in 2004, two additional CdLS genes have been identified. What is the life expectancy of a person with CdLS? A person with CdLS can live a normal lifespan. However, if medical problems such as recurrent pneumonia, intestinal issues or congenital heart defects are not identified and properly treated, they may result in a shortened lifespan.

What is the Center for Cornelia de Lange Syndrome and Related Diagnoses?

From a medical perspective, syndromes involving multiple systems of the body can be difficult to manage. A child with CdLS might see eight different specialists. Many doctors also may not be familiar with the syndrome. The Children’s Hospital of Philadelphia has one of the world’s best teams of specialists with expertise in this, and related, syndromes. We have evaluated more than 1,000 children with CdLS, making this the largest program of its kind. Communication between care providers, and with families, is a tenet of our care. Patients have traveled to see us from all over the United States and from countries including Italy, Bermuda, Iran, Egypt, Mexico, Hungary and the Dominican Republic.

What other syndromes does the center treat?

Our team also evaluates children and adults with other rare genetic diagnoses that involve cognitive impairment and problems with multiple systems of the body.

What can I expect when I make an appointment at the center?

Before your first visit, you will be asked to send medical records, photos and your child’s insurance information. During your visit you will see a geneticist, gastroenterologist, developmental pediatrician and physical therapist. Based on your child’s needs, we will schedule appointments with specialists from other areas of medicine, which may include neurology, cardiology, ophthalmology, dermatology, orthopaedics, psychiatry and others. In all, you should expect to spend two to three days here.

After your visit, the team will discuss your child’s needs and develop a comprehensive care plan that will be provided to you and your child’s caregivers. You will be given a “Take Good Care of Me!” booklet with a summary of your child’s clinical issues and medical needs to share with doctors and other health professionals. This booklet will educate them about your child’s unique needs, in order to foster safer and more effective treatment. In addition, we will give you a “care binder” to store and organize test results, doctors’ reports, insurance paperwork and other important documents.

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