Cornelia de Lange Syndrome (CdLS) is a really rare genetic disorder present from birth, but not necessarily diagnosed at birth. It causes a variety of cognitive, physical, and health care issues and affects both genders equally. The syndrome is named after Dutch pediatrician Cornelia Catharina de Lange, who described it.
It’s frequently termed Bushy Infection and can also be called Amsterdam dwarfism. It’s a genetic illness which may result in severe developmental anomalies. It affects the physical and intellectual growth of a young child. Precise phenomenon is unknown, however, it is estimated at 1 in 10,000 to 30,000.Cornelia de Lange syndrome is a developmental disorder which affects many areas of the human body. The qualities of this disease vary widely among affected people and are relatively mild to severe.
Cornelia de Lange syndrome is characterized by slow growth before and after birth resulting in short stature; the intellectual disability that’s usually moderate to acute; and abnormalities of bones in the arms, hands, and fingers. Many people with Cornelia de Lange syndrome also have distinctive facial features, such as arched eyebrows which frequently meet in the centre (synophrys), long lashes, low-set ears, small and widely spaced teeth, plus also a small and upturned nose. Many affected individuals also have behaviour issues very similar to autism, a developmental condition which affects communication and social interaction.
Symptoms of Cornelia de Lange syndrome
Following are the features and characteristics that help in spotting this disorder:[2]
- Low birth weight (usually under 5 pounds/2.5 kilograms)
- Delayed growth and small stature
- Developmental delay
- Limb differences (missing limbs or portions of limbs)
- Small head size (microcephaly)
- Thick eyebrows, which typically meet at midline (synophrys)
- Long eyelashes
- Short upturned nose and thin downturned lips
- Long philtrum
- Excessive body hair
- Small hands and feet
- Small widely spaced teeth
- Low-set ears
- Hearing impairments
- Vision abnormalities (e.g., ptosis, nystagmus, high myopia, hypertropia)
- Partial joining of the second and third toes
- Incurved 5th fingers (clinodactyly)
- Gastroesophageal reflux
- Seizures
- Heart defects (e.g., pulmonary stenosis, VSD, ASD, coarctation of the aorta)
Causes
It may be related to mutations affecting the cohesin complicated.
Numerous genes are linked to the condition. In 2004, researchers in the Children’s Hospital of Philadelphia (United States) along with also the University of Newcastle on Tyne (England) identified a receptor (NIPBL) on chromosome 5 which triggers CdLS if it’s mutated. Ever since that time, additional genes are discovered (SMC1A, SMC3 and HDAC8) which trigger CdLS when altered. There are probably different genes too. Researchers hope to acquire a better comprehension of why CdLS changes so widely from 1 person to another and everything could be done to enhance the standard of life for individuals with the syndrome.
Treatment
Many times, an interdisciplinary approach is suggested to take care of the problems related to CdLS. A staff for boosting the child’s well-being frequently includes language, occupational and physical therapists, educators, doctors and parents.
