Cornelia De Lange Syndrome: Causes, symptoms, and treatment
Cornelia De Lange Syndrome (CdLS) is a developmental disorder that affects different parts of our body. It is characterized by a distinctive facial appearance, prenatal and postnatal growth deficiency, feeding difficulties, psychomotor delay, behavioral problems, and associated malformations that mainly involve the upper extremities. Since 1898, the second Saturday of May is observed as Cornelia de Lange Syndrome Awareness Day.
Significance of the awareness day
No one could really describe the symptoms of Cornelia de Lange Syndrome until 1933. A Dutch physician Dr. Cornelia de Lange was the first to do so in 1933. The syndrome was thus named after the physician. It was in 1989 that the observance day was founded. The aim is to educate people about this condition, the tests, and the diagnostics.
What causes this syndrome?
CdLS can result from variants (also called mutations) in one of several genes. The proteins produced from most of the genes involved in CdLS contribute to the structure or function of the cohesin complex, a group of proteins crucial in development before birth. Researchers suspect that additional genetic or environmental factors may also be a cause in determining specific symptoms in the individuals.
Know its symptoms
The syndrome likely affects one in 10,000 to 30,000 newborns and is apparent at birth. Many infants with CdLS have an unusually small head; abnormalities of bones in the arms, hands, and fingers; a depressed nasal bridge or upturned nostrils. Intellectual development delays amongst other system abnormalities like prominent facial features, small limbs, dysplasia, feeding difficulties, seizures, and heart defects, are also observed.
How is it diagnosed?
The symptoms of this condition are not the same for everyone, making it difficult to diagnose them. There are characteristics to look out for such as small-sized head and below-average weight when compared to others in that age group. The condition is probably underdiagnosed because affected individuals with mild or uncommon features may never be recognized as having Cornelia de Lange Syndrome.
Available treatments
Every infant or child needs to be assessed for common accompanying significant abnormalities that require therapy or surveillance once the clinical diagnosis of CdLS has been established. Every diagnosed infant and toddler should have routine renal and echocardiograms. Imaging of the central nervous system is only advised in rare cases of neurological symptoms like seizures.
