Home > D. Systemic pathology > Genetic and developmental anomalies > Feingold syndrome

Feingold syndrome

MIM.164280 2p24-p23

Monday 18 April 2005

Feingold syndrome is an autosomal dominant disease characterized by variable combinations of esophageal and duodenal atresias, microcephaly, learning disability, syndactyly and cardiac defect.

Synopsis

- short palpebral fissures (10817649)
- short stature (10817649)

- digestive anomalies

  • esophageal atresia
    • esophageal atresia without fistula (type A) (10817649)
    • esophageal atresia tracheoesophageal fistula
  • duodenal atresia
  • imperforate anus (anal imperforation) (10817649)

- hydronephrosis
- bilateral non-obstructive renal dysplasia (BNORD) (15185158)

- skeletal anomalies

- variable microcephaly
- learning disability (10817649)

Etiology

- heterozygous mutations in the gene MYCN in Feingold syndrome (15821734)

  • MYCN haploinsufficiency is associated with reduced brain size and intestinal atresias in Feingold syndrome (15821734)
  • All mutations are predicted to disrupt both the full-length protein and a new shortened MYCN isoform

References

- van Bokhoven H, Celli J, van Reeuwijk J, Rinne T, Glaudemans B, van Beusekom E, Rieu P, Newbury-Ecob RA, Chiang C, Brunner HG. MYCN haploinsufficiency is associated with reduced brain size and intestinal atresias in Feingold syndrome. Nat Genet. 2005 May;37(5):465-7. PMID: 15821734

- Holder-Espinasse M, Ahmad Z, Hamill J, Pahari A, Misra D, Drake D, Winter RM, Wilson LC. Familial syndromic duodenal atresia: Feingold syndrome. Eur J Pediatr Surg. 2004 Apr;14(2):112-6. PMID: 15185158

- Celli J, van Bokhoven H, Brunner HG. Feingold syndrome: clinical review and genetic mapping. Am J Med Genet A. 2003 Nov 1;122(4):294-300. PMID: 14518066