Feingold syndrome
Feingold syndrome is the association of learning disability, microcephaly, facial dysmorphism, short stature, brachymesophalangy (shortness of the middle phalanges of the fingers) and other digital anomalies. There are two types of Feingold syndrome: many patients with FS type 1 reveal also gastrointestinal defects, mainly esophageal or duodenal atresia. FS type 2 is related to mutations of the MIR17HG gene on chromosome 13q31 (or deletions involving this gene). FS type 1 is caused by mutations of the MYCN gene or deletions of the piece of the short arm of chromosome 2 (2p24.3) containing this gene. The authors report 11 new cases of Feingold syndrome type 1 from 6 families. In 4 of these families the disorder was caused by mutations in the MYCN gene, in 2 other families it was caused by deletions 2p24.3. In one of these families the proband who in addition to typical manifestations had duodenal atresia and epilepsy also had a 1.23 Mb deletion of chromosome 2p24.3p24.2. The same deletion was found in her mildly affected mother and grandmother. The authors suggest that even mild microcephaly in association with facial dysmorphism and digital abnormalities like hypoplastic thumbs, brachymesophalangy and clinodactyly of the 5th fingers are sufficient to suspect Feingold syndrome. Significant clinical variability may be found even within a family having the same deletion or mutation.
Tedesco M.G. et al. “Clinical and molecular characterizations of 11 new patients with type 1 Feingold syndrome: Proposal for selecting diagnostic criteria and further genetic testing in patients with severe phenotype”. “Amer. J. Med. Genetics”, 2021, v. 185 (4), 1204-1210.
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