Building Your Specialist Care Team

While the gastrointestinal team often manages the most frequent daily challenges in Cornelia de Lange Syndrome (CdLS), a broader team of specialists is needed to monitor other systems of the body. Because CdLS can affect the heart, eyes, ears, and bones, the 2018 International Consensus Statement recommends a proactive approach: identifying issues early—even before they cause symptoms—gives your child the best start ^[1].

Cardiology: The Heart

Approximately 30% of children with CdLS are born with a congenital heart defect (CHD) ^[2]. Because these are not always audible with a stethoscope, every child should have an echocardiogram (an ultrasound of the heart) at the time of diagnosis ^[1].

• Common Findings: The most frequent issues include atrial septal defects (a “hole” between the upper chambers) and pulmonary stenosis (a narrowed valve that slows blood flow to the lungs) ^[2][3].
• Long-term Care: Even if your child’s heart is healthy at birth, follow-up imaging and advanced measures should be based on initial findings, symptoms, and specific cardiologist advice ^[4].

Ophthalmology: The Eyes

Vision is a primary way children learn, but many with CdLS have eye issues that are not immediately obvious.

• Refractive Errors: Nearsightedness (myopia) and other refractive errors are common, meaning things far away are blurry ^[5].
• Ptosis: This is a “droopy” eyelid that can partially block vision or cause a child to tilt their head back to see ^[6].
• Nasolacrimal Duct Obstruction: A term for blocked tear ducts, which can lead to watery or “matted” eyes ^[5].
• Monitoring: Your child should see an ophthalmologist starting at diagnosis. Be prepared for the doctor to use special drops to dilate the eyes, as this is often important for an accurate pediatric prescription for a child who cannot yet read an eye chart ^[6].

Audiology: The Ears

Hearing loss is reported in a significant portion of the CdLS population and can be conductive (related to the ear canal or middle ear) or sensorineural (related to the inner ear or nerves) ^[7].

• Middle Ear Issues: Many children have very narrow ear canals and frequent “fluid behind the ears” (otitis media), which can muffle sound ^[7].
• Testing: Because standard behavioral tests can be hard for young children with CdLS, doctors often use an Auditory Brainstem Response (ABR) test, which measures how the brain responds to sound ^[8][9]. This can be done during natural sleep, or if necessary, with sedation. If sedation is required for any procedure, careful airway and anesthesia planning is vital due to the high risks of reflux and aspiration.
• Fluctuating Hearing: Interestingly, hearing in CdLS can sometimes improve or change over time, so regular longitudinal testing is essential ^[8].

Orthopedics: The Bones and Joints

An orthopedic specialist monitors your child’s growth and mobility.

• Limb Differences: While upper-limb differences (like missing fingers) are often noted at birth, orthopedists also look for limb-length discrepancies, where one leg is slightly longer than the other ^[10][11].
• Feet and Spine: They will check for pes equinovarus (clubfoot) and scoliosis (curvature of the spine), which can become more prominent as a child enters puberty ^[11][12].
• Physical Therapy (PT): The orthopedist often works closely with PTs to recommend braces (orthoses) or exercises to help with walking and balance ^[1].

Other Critical Care Team Members

• Dentistry: Routine, specialized dental care is essential, as cavities and gum disease are frequent hidden sources of pain ^[13].
• Sleep Medicine: Evaluation for sleep-disordered breathing or sleep apnea is important, as sleep disruption significantly impacts behavior ^[14].
• Neurology: Not every child with CdLS needs a neurologist, but an evaluation is necessary if there are signs of seizures or significant “staring spells” ^[11]. Epilepsy is more common in children with the SMC1A genetic variant, where it can be quite severe ^[15].

Preparing for Specialist Visits

To make the most of these appointments, consider bringing:

1. Genetic Results: Bring the actual lab report; specialists need to see the specific gene and “variant” name.
2. Videos: If you see an unusual movement, eye tilt, or staring spell, record it. It is much easier to show a doctor than to describe it.
3. Prior Records: Have copies of the most recent hearing test or any “baseline” scans like the renal (kidney) ultrasound, which is also recommended at diagnosis to check for structural changes ^[1].
4. Observation Log: Note if your child seems to prefer looking out of the corners of their eyes or if they stop responding to soft sounds.