Cornelia de Lange Syndrome - Treatment & Management

Children with CdLS should have developmental services initiated at diagnosis, starting with Early Intervention, followed by special education (preschool through high school) as needed. The majority of children with CdLS will have intellectual disability, although there are some with normal intelligence. See Growth and development charts for children with CdLS (CdLS Foundation) for expected age ranges for common developmental milestones. A large percentage have hearing loss and a smaller proportion have visual abnormalities. These children should be referred to vision- and hearing-specific developmental programs, often available through the state's services for the hearing and vision impaired. In some states the "Intervener program" (see see all Schools for the Deaf & Blind services providers (7) in our database) is available for children who are BOTH hearing and vision impaired. Consider augmentative and alternative communication in children with CdLS who are non-verbal. See Augmentative Communication (general).

Subspecialist Collaborations and Other Resources

The majority of children with CdLS have gastroesophageal reflux disease (GERD). They may also have malrotation of the intestine or other congenital malformations which may cause acute abdominal distress due to volvulus. Constipation is also a common problem and should be treated aggressively.

• If GERD is present, medical treatment (H2 blockers, proton pump inhibitors, prokinetics, see Gastroesophageal reflux (general)) or surgical treatment (Nissen fundoplication and possibly placement of a gastrostomy tube) is usually necessary. In addition to short-term pain from reflux esophagitis, long-term esophagitis may lead to a precancerous condition called Barrett's esophagus. Eosinophilic esophagitis may require further evaluation (food allergy testing) and treatment. See also Nutrition and feeding issues in children with chronic medical conditions (general).
• Acute abdominal pain should prompt evaluation for malrotation and volvulus, which may be fatal. Families should have an emergency card (Medical alert card (CdLS Foundation)) to alert clinicians to this possibility.
• See Constipation treatment (general) for information about constipation treatment.

Subspecialist Collaborations and Other Resources

Children with CdLS usually have growth retardation, which begins prenatally, and are small with respect to height, weight, and head circumference. These parameters should be plotted on CdLS-specific growth charts (Growth and development charts for children with CdLS (CdLS Foundation)) to assure growth is appropriate. Nutrition services may be helpful if weight gain is less than expected.

Feeding difficulties occur in up to 70% of children with CdLS and may result in their not meeting weight gain expectations. Problems may include immature feeding/swallowing patterns, gastroesophageal reflux, or adverse reactions to oral feeding following a period of tube feeding. Consultation with a gastroenterologist may be helpful in deciding whether the child may be helped by increasing caloric intake, power packing (see Power Packing (general)), or a gastrostomy tube (G-tube) (Nutrition and feeding issues in children with chronic medical conditions (general)). As there are often emotional issues surrounding G-tube insertion, advise families that they can be temporary, can be removed fairly easily (especially percutaneous ones), and that children may still be fed orally.

G-tubes come in several different types, including percutaneous endoscopic gastrostomy tubes (PEGs). PEG insertion usually requires a shorter hospital stay than surgically-placed tubes. Parents should understand that G-tubes do not stop gastroesophageal reflux and, in a small percentage of patients, GERD may worsen. G-tubes will not prevent aspiration of secretions or liquid or solid foods fed by mouth. See Gastrostomy.

Osteoporosis is also observed frequently. Consider referral to endocrinology for children with fractures and osteoporosis on bone densitometry studies (DXA scan) to consider bisphosphonate treatment. This is particularly important if they are on medications that may increase bone loss, such as seizure medications (e.g., valproic acid) or proton pump inhibitors.

Subspecialist Collaborations and Other Resources

Children with CdLS often have similar behavioral problems, sometimes called a "behavioral phenotype" [Basile: 2007], including intellectual disability, self-injurious behavior, poor communication (30-85% have no verbal communication), aggression, compulsions, stereotypical behaviors (in 57-80%) and/or "autism-like behaviors." When dealing with a particular behavior problem, the Medical Home should first rule out causes of physical discomfort, including gastroesophageal reflux, dental problems, ear and sinus infections, and constipation. Sensory neuropathy may cause painful or tingling sensations, numbness, or insensitivity to pain and may present behaviorally if the child has no way to communicate. Discolored hands and feet may be due to Raynaud syndrome, which may cause pain.

Once a medical cause for a new behavior is ruled out, obtain details about the behavior from parents, teachers, or other caregivers. Reasons for problem behaviors may include sensory reinforcement, task avoidance, boredom, and an attempt to communicate. A psychologist or behaviorist may design a program to decrease specific behaviors, which may include increasing the child's communication when possible. Medications may be helpful, including tricyclic antidepressants, selective serotonin reuptake inhibitors (SSRIs), alpha-2 agonists, benzodiazepines, seizure medications, and atypical antipsychotics. See the Autism Spectrum Disorders module for more information regarding specific medications. Consultation with a child psychiatrist is recommended if the Medical Home clinician is uncomfortable using these medications. Questions in the "Ask the Expert" regarding Behavior in children with CdLS (CdLS Foundation) may be helpful for providers and families.

Subspecialist Collaborations and Other Resources

Children with CdLS may often have very disrupted sleep patterns.

• Consider physical causes of disrupted sleep, such as constipation, obstructive sleep apnea, and pain from gastroesophageal reflux and/or ear and sinus infections.
• Consider poor sleep hygiene and suggest behavioral interventions. It might be helpful to ask the family to record sleep difficulties for a week or two to see the overall sleep pattern.
• Consider low iron levels causing restless leg disorder and a trial of iron if ferritin and iron blood levels are low.
• Medications may be necessary if behavioral measures fail, including melatonin, rozerem, trazodone, and clonidine. See Sleep Problems (general) and Medications for sleep (general).

Subspecialist Collaborations and Other Resources

Seizures occur in about 25% of children with CdLS. Treatment will depend on the age of the child, the type of seizures, and associated medical conditions. For an article about seizures in the CdLS Foundation journal Reaching Out, see Seizures in children with CdLS (CdLS Foundation) ( 673 KB) .

Subspecialist Collaborations and Other Resources

Puberty may occur later than in unaffected individuals; a minority of children with CdLS never enter puberty. Adolescents with CdLS will need education regarding sexuality individualized to developmental abilities. Females with CdLS may require hormonal therapy for management of menstruation and/or pregnancy prevention. For more details, see the Intellectual Disability (Mental Retardation) module.

Children with CdLS should have early and frequent referrals to pediatric dentistry. Common dental problems include small jaw, small crowded teeth, missing teeth, delayed eruption, difficult oral hygiene, and GER leading to enamel erosion. Caries or periodontal disease may contribute to behavior problems. Sedation may be required for routine oral procedures, such as cleaning and sealant application; concurrent scheduling of other needed evaluations, such as endoscopy and ophthalmology exams, will limit exposure to anesthetics and help the family. Underlying problems with anatomy and GER may adversely affect their teeth. Evaluation by a pediatric dentist is recommended at approximately 6 month intervals. Consider hospital-based dental care if indicated.

Subspecialist Collaborations and Other Resources

For Professionals

Cornelia de Lange syndrome (GeneReviews)

For Parents and Patients

Treatment protocols are available (Treatment protocols (CdLS Foundation)) as are Management and Treatment Guidelines (CdLS Management Guidelines (CdLS Foundation) ( 44 KB) ) based on the following article. These guidelines represent expert clinical opinion regarding the management of CdLS.

Child Psychiatry

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Child Psychology

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Early Intervention Programs

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General Dentistry for CSHCN

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General Pediatric Surgery

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Hearing Services

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Nutrition/Dietary

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Pediatric Dentistry

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Pediatric Endocrinology

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Pediatric Gastroenterology

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Pediatric Neurology

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Pediatric Sleep Medicine

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Preschool/Early Childhood Education

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School Districts

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Schools for the Deaf & Blind

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Vision Services

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A listing of ongoing research studies is available through the CdLS Foundation.