Definition:
Cornelia de Lange syndrome is a very uncommon disorder that involves delayed physical growth, as well as a variety of malformations of the face, limbs, and head. The traits of this condition vary expansively among affected people, and differ from fairly mild to serious.
Diagnosis:
The condition is diagnosed based on symptoms and signs observed by a doctor. Diagnosis includes medical history, laboratory tests, and physical examination.
Treatment:
In most cases, interdisciplinary approach of treatment and therapy of any health issues that develop is suggested. Treatments for an affected child's health include physical and occupational therapy, as well as speech therapy.
Symptoms and Signs:
Symptom severity is variable; these include head abnormalities, hand malformations, facial abnormalities, and delayed physical growth prior to birth and after birth. Less common manifestations of the disease include eye problems, seizures, and skeletal abnormalities. Affected children have often been seen to feature bushy eyebrows, long eyelashes, and synophyrs. There is also an excessive body hair, as well as being shorter in stature than other immediate family members.
Causes:
The syndrome is caused by the mutations in genes. These genes include SMC3, SMCIA, and NIPBL. The changes disrupt function of the genes involved in regular development, resulting to varied symptoms and signs of the syndrome.
The information on this site is for research purposes only and can not substitute for the advice of a medical professional. Ailments.com is not run by doctors and does not engage in the practice of medicine. Our site is not a medical authority, it is just a research tool for you to use in preparation for consulting with a doctor. We can not guarantee our information is accurate or up to date. Even if a statement made about a medical condition is accurate, it may not apply to you or your symptoms, so you should always consult a doctor. Nothing on our site should be construed as an attempt to offer or render a medical opinion or otherwise engage in the practice of medicine.
