KEGG   DISEASE: Feingold syndrome
Entry
H00510                      Disease                                
Name
Feingold syndrome
Description
Feingold syndrome (FGLDS) is characterized by limb malformations, microcephaly, esophageal/duodenal atresias, and learning disability. Feingold syndrome is caused by mutations in MYCN and inherited as an autosomal dominant trait.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD2F  Syndromes with multiple structural anomalies, without predominant body system involvement
    H00510  Feingold syndrome
Gene
(FGLDS1) MYCN [HSA:4613] [KO:K09109]
Other DBs
ICD-11: LD2F.1Y
MeSH: C537734
OMIM: 164280
Reference
  Authors
Mundlos S
  Title
The brachydactylies: a molecular disease family.
  Journal
Clin Genet 76:123-36 (2009)
DOI:10.1111/j.1399-0004.2009.01238.x
Reference
  Authors
Teszas A, Meijer R, Scheffer H, Gyuris P, Kosztolanyi G, van Bokhoven H, Kellermayer R
  Title
Expanding the clinical spectrum of MYCN-related Feingold syndrome.
  Journal
Am J Med Genet A 140:2254-6 (2006)
DOI:10.1002/ajmg.a.31407
Reference
  Authors
Marcelis CLM, de Brouwer APM
  Title
Feingold Syndrome
  Journal
GeneReviews (1993)
Reference
PMID:9096751
  Authors
Kawame H, Pagon RA, Hudgins L
  Title
Digital anomalies, microcephaly, and normal intelligence: new syndrome or Feingold syndrome?
  Journal
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