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Cornelia de Lange Syndrome

Cornelia de Lange Syndrome 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.

Cornelia de Lange Syndrome 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.

Cornelia de Lange Syndrome Diagnosis

The condition is diagnosed based on symptoms and signs observed by a doctor. Diagnosis includes medical history, laboratory tests, and physical examination.

Cornelia de Lange Syndrome 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.

Cornelia de Lange Syndrome 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.

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