Question: What is (are) Cornelia de Lange syndrome ?
Answer: Cornelia de Lange syndrome (CdLS) is a developmental disorder that affects many parts of the body. The severity of the condition and the associated signs and symptoms can vary widely, but may include distinctive facial characteristics, growth delays, intellectual disability and limb defects. Approximately 65% of people affected by CdLS have a change (mutation) in the NIPBL gene. Another 5% of cases are caused by mutations in one of four known genes: SMC1A, SMC3, HDAC8 and RAD21. In the remaining 30% of cases, the underlying genetic cause of the condition is unknown. CdLS can be inherited in an autosomal dominant (NIPBL, SMC2, or RAD21) or X-linked (SMC1A or HDAC8) manner. However, most cases result from new (de novo) mutations and occur in people with no family history of the condition. Treatment is based on the signs and symptoms present in each person.
Source: GARD

Question: Is Cornelia de Lange syndrome inherited ?
Answer: Is Cornelia de Lange syndrome inherited? Cornelia de Lange syndrome (CdLS) can be inherited in an autosomal dominant (NIPBL, SMC2, or RAD21) or X-linked (SMC1A or HDAC8) manner depending on the underlying genetic cause. However, most cases (more than 99%) result from new (de novo) mutations and occur in people with no family history of the condition.
Source: GARD

Question: How to diagnose Cornelia de Lange syndrome ?
Answer: How is Cornelia de Lange syndrome diagnosed? A diagnosis of Cornelia de Lange syndrome (CdLS) is generally based on the presence of characteristic signs and symptoms during a thorough medical evaluation. In some cases, genetic testing can be ordered to confirm the diagnosis; however, it may not be informative in all people affected by CdLS as the underlying genetic cause is unknown in approximately 30% of cases. GeneReviews' Web site offers more specific information about the treatment and management of CdLS. Please click on the link to access this resource.
Source: GARD

Question: What are the treatments for Cornelia de Lange syndrome ?
Answer: How might Cornelia de Lange syndrome be treated? Because Cornelia de Lange syndrome (CdLS) affects many different systems of the body, medical management is often provided by a team of doctors and other healthcare professionals. Treatment for this condition varies based on the signs and symptoms present in each person. For example, many people affected by CdLS have poor growth after birth and may require supplemental formulas and/or gastrostomy tube placement to meet nutritional needs. Ongoing physical, occupational, and speech therapies are often recommended to optimize developmental potential. Surgery may be necessary to treat skeletal abnormalities, gastrointestinal problems, congenital heart defects and other health problems. Medications may be prescribed to prevent or control seizures. The CdLS foundation's Web site offers more specific information about the treatment and management of CdLS. Please click on the link to access this resource.
Source: GARD