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A new variant of MYCN gene as a cause of Feingold syndrome
Naim Zeka1, Ramush Bejiqi2,3, Abdurrahim Gerguri1
1Pediatric Clinic Department of Neurology University Clinical Center of Kosovo Pristina Kosovo.
Abstract:
Feingold syndrome 1 (FS1) is a rare disorder that is inherited in autosomal dominant manner with full penetrance but with variable expressivity. The most common phenotypical features described are finger and toe anomalies, microcephaly, short stature, and intestinal atresia. Dysmorphic features, intellectual disability and other organ anomalies are less frequently described. Here, we present a 7-year-old boy with severe intellectual disability who is diagnosed with FS1 syndrome caused by a new heterozygous variant of MYCN gene.
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