Cornelia de Lange Syndrome (CdLS) is a rare genetic condition that affects growth and development and can range from mild to severe. It is present from birth and is usually not inherited, but rather due to an acquired change (mutation) in one of seven important developmental genes at or shortly after conception. The signs of CdLS may be obvious from birth or even prenatally, especially if severely involved, but may not be diagnosed until the child is older when it is milder. CdLS causes a broad range of potential physical, cognitive, and medical challenges that it is now known as the CdLS spectrum disorder. Some of the common features of CdLS include:
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Slow growth: Children with CdLS may have slow growth before and after birth leading to short stature.
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Intellectual disability: Children with CdLS may have intellectual disability that is usually mild to moderate.
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Physical differences: Children with CdLS may have distinctive facial features, such as thin eyebrows that meet in the middle, long eyelashes, a small upturned nose, and a thin downturned upper lip.
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Medical issues: Children with CdLS may have medical issues such as gastroesophageal reflux disease (GERD), hearing loss, heart defects, seizures, and vision problems.
The diagnosis of CdLS is primarily a clinical one based on signs and symptoms observed through an evaluation by a physician, including a medical history, physical examination, and laboratory tests. Genetic testing can be helpful in confirming the clinical diagnosis and assessing which gene is involved. Although seven separate gene mutations have been identified as causing CdLS, not every person tests positive for one of these gene changes. If you suspect your child has CdLS, a genetic specialist can help.
