What Is Cornelia de Lange Syndrome?
Cornelia De Lange Syndrome is a disorder caused by a genetic disorder and it is present at birth. The syndrome usually represents abnormality related to the mental and physical growth of the newborn. Moreover, the facial features and development of the limbs are visibly affected by the syndrome in the newborn. The syndrome is so rare that only 1 in 10,000 to 30,000 cases are seen in the world. A typical case of this disorder is very easy to diagnose by an experienced pediatrician at the time of birth. As the syndrome represents a very distinctive craniofacial appearance, growth pattern, and abnormality related to hands and feet. However, the appearance of the disorder progression varies on the severity of the disorder.
What Are the Causes of Cornelia de Lange Syndrome?
Cornelia De Lange Syndrome is primarily caused by one of the mutated genes not working correctly. A cell in the human body is considered to be the foundation of any living organism. DNA is found in the body’s cells at the very center, and genes are a very essential part of it. The nucleus of the cell where the DNA is found comprises 23 different pairs of chromosomes. Each of the genes has a different function in the body. For instance, some are useful in providing instruction to the proteins, some guide the action of the other genes, and other makes RNA to aid chemical reactions in the body, etc.
CdLS (Cornelia De Lange Syndrome)is an inherited autosomally dominant disorder. There are known to be seven genes involved in the mutation. Usually, in dominant genetic mutation, only one particular gene mutation is necessary to cause the abnormality. This gene can be inherited from either mother or father, or it can be the result of a whole new genetic mutation. Newborns of either gender are born with at least a 50 % chance to inherit abnormal genes from either of the parents. However, males are more affected than females as the disorder is an X-linked genetic disorder. It usually occurs in males because they inherit the X chromosome from their mother with the same abnormal genes. On the other hand, the females are usually found to be a carrier of the condition without any signs or symptoms as they have two X chromosomes and one of which is inactivated.
What Are the Signs and Symptoms of Cornelia de Lange Syndrome?
The syndrome shows many symptoms related to physical and mental development, such as:
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Talipes: It is the developmental deformity of the foot and ankle. It is also known as clubfoot caused by short Achilles tendon.
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Truncal Obesity: It is the fat accumulation located mainly around the trunk (stomach) of the body.
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Ventricular Septal Defect: It is caused by a hole between two ventricles (two chambers) of the heart.
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Ventriculomegaly: It is an occasional symptom seen with the syndrome where there is an increase in the size of the ventricular system of the brain.
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Volvulus: It is the symptom where the loop of the intestine twists around itself causing bowel obstruction.
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Abnormally Low-Pitched Voice: It is one of the classic symptoms associated with the syndrome due to developmental defect.
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Anteverted Nares: It is another one of the most common symptoms associated with the syndrome. The nostrils of the child are anteriorly facing with an upturned nasal tip.
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Atresia Of The External Auditory Canal: It is the developmental deformity that occurs due to the absence or failure of the external auditory canal causing the hearing impairment in the newborn.
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Brachycephaly: It is another developmental deformity in newborns where the skull’s length to width ratio is affected.
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Curly Eyelashes: Newborns with this syndrome have abnormally curly eyelashes that can be very distinctive.
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Delayed Eruption Of Teeth: The infants with this disorder have abnormally delayed eruption time for the deciduous teeth due to developmental delays.
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Delayed Skeletal Maturation: It is a very distinctive feature that can be diagnosed with a radiograph that shows the immature age of the skull.
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Depressed Nasal Bridge: Due to the posterior and backward positioning of the nasal bone, the nasal bridge can appear to be depressed in the shape.
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Downturned Corners Of Mouth: It is the morphological deformity of the facial features, where the angle of the mouth is down-turned causing this effect.
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Gastroesophageal Reflux: It is the acid reflux that normally occurs due to the stomach acid flowing back to a tube that connects the mouth to the stomach.
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Generalized Hirsutism: Excessive growth of the hairs at unwanted places on the body.
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High Palate: It is one of the very frequent symptoms associated with this syndrome, where the palate appears to be oddly higher.
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Highly Arched Eyebrow: Children with this disorder have inverted U-shaped high arched eyebrows.
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Hypertonia: Hypertonia is the abnormal overgrowth of the muscles around arms and legs which makes it impossible to move.
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Intellectual Disability: Usually the children with this condition have an intelligence quotient (IQ) score of less than 70 due to developmental defects at birth.
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Short Foot: The children with this condition have an abnormally short foot.
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Short Neck: It is another very significant physical feature associated with this syndrome. The reason behind this symptom is retarded growth in infants.
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Short Stature: Children with this disorder have a short height than normal.
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Attention Deficit Hyperactivity Disorder: This symptom appears to be manifested around the age of 2 to 3 years, Where the child shows symptoms such as impulsivity, distractibility, difficulty falling asleep, aggressive and cranky nature, and impatient behavior.
How to Diagnose Cornelia de Lange Syndrome?
The diagnosis of Cornelia de Lange Syndrome is made based on the following:
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Case History: It is a very important step in the diagnosis of any disease. As the detailed case history can reveal many physical symptoms, and family history that can be the cause of the syndrome. The pediatrician during this session asks the parents about their history of diseases or if the patient is having any abnormal behavior or physical appearance.
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Physical Examination: During this step, the pediatrician looks for any abnormal physical classic signs by asking the parents. The pediatrician usually checks for vital signs such as heart rate, temperature, blood pressure, weight, and height of the patient. Also, they look for the signs and symptoms such as abnormal tenderness, swelling, lumps, or masses. Additionally, they check the children’s normal internal body sounds and check for the presence of air or liquid in the organs by tapping method.
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Genetic Testing: Genetic testing not only provides active mutation of the DNA but also is the diagnostic method used for investigating the inactivated and mutated genes in the body. In many cases, this method is very useful to rule out the diagnosis.
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Imaging Tests: Diagnostic methods such as radiographs or ultrasound can reveal the abnormality or defects related to the internal organs or bones.
How to Manage Cornelia de Lange Syndrome?
Cornelia de Lange syndrome is caused by a genetic mutation, and it is very difficult to reverse the damage it has already caused. However, the physical symptoms and complications can be managed with surgical and therapeutical support in the children. The primary care provider can educate the parents and caregivers about the complicated measures required to manage the symptoms with the help of different specialties.
Additionally, symptom management can include a diet plan, physical therapy, speech therapy, clinical procedures, and supportive care.
Conclusion
However, the Cornelia de Lange syndrome does not have any treatment plans to reverse the condition. The symptoms of the disorder can be well managed if the condition is diagnosed early. Also, supportive therapy and occupational therapy require constant care for children, so parents need to take their children for regular follow-ups. Sometimes the complication related to this condition can be life-threatening too.
