Feingold syndrome


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Feingold syndrome

An extremely rare (less than 100 cases in the world literature) autosomal dominant condition (OMIM:164280) characterised by microcephaly, malformation of digits (e.g., clinodactyly, syndactyly), short palpebral fissures, oesophageal and duodenal atresias, and variable learning disability or mental retardation.

Molecular pathology
Feingold syndrome is caused by a mutation of MYCN, a gene on chromosome 2p24.3 that encodes a DNA binding transcription factor.
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Table 2 delineates the main distinguishing features in the major differential diagnoses, which include Fanconi anaemia, Feingold syndrome, Charge syndrome, DiGeorge syndrome (or 22q11.2 deletion syndrome), oculo-auriculovertebral syndrome, Currarino syndrome and VACTERL H.