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Feingold Syndrome

Feingold Syndrome Causes

The syndrome is identified as an ‘autosomal dominant' disorder rooting from the heterozygous mutations of the MYCN gene. These mutations result in haploinsufficiency, as well as deletions of two whole genes.

Feingold Syndrome Definition

Feingold syndrome is an extremely uncommon syndrome with several congenital anomalies. The syndrome is characterized largely by gastrointestinal abnormalities, toe and finger deformities, eye abnormities, and a small head. The features of the syndrome share considerable overlap with Vacterl and Vater connections, particularly patients that have esophageal/duodenal atresia.

Feingold Syndrome Diagnosis

Diagnosis of the syndrome is based on history, physical examinations, and laboratory tests. The use of genomic DNA taken from blood or cheek swabs is analyzed through bi-directional sequencing of splice sites and coding regions of the MYCN gene. The method is anticipated to identify ninety-nine percent of existing intrageneic small mutations.

Feingold Syndrome Symptoms and Signs

The most notable symptoms include digital abnormalities, microcephaly, and esophageal/duodenal atresia. Other symptoms include small head, ear anomalies, anteverted nostrils, small jaw, short palpebral fissures, low nasal bridge, finger deformities, webbed toes, vertebral clefts and blocks, and abnormal opening in the connection between the esophagus and trachea.

Feingold Syndrome Treatment

No cure or standard treatment has been found for the syndrome. However, mutation-specific tests in family members, as well as prenatal diagnosis in ‘at-risk pregnancies' is obtainable once the mutations in affected individuals has been recognized.

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