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.
Key features distinguishing the main differential diagnoses of VACTERL association Syndrome Features distinct from VA Fanconi anaemia Haematologic abnormalities, especially megaloblastic anaemia Pigmentation abnormalities, especially hyperpigmentation or Cafe au lait spots Propensity to develop malignancies Alagile syndrome Biliary duct abnormality Eye anomalies Facial abnormality Charge syndrome Choanal atresia Colobomata Growth impairment Ear anomalies Feingold syndrome Digital phalangeal abnormalities Microcepahly Cognitive impairment Typical facial appearance Oculo-auriculo- Microtia vertebral syndrome Hemifacial microsomia Neurocognitive impairment Deletion 22q11.