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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

  • vertebral anomalies
  • hand and foot anomalies,
    • flexion deformity of middle finger
    • clinodactyly of second fingers
    • clinodactyly of fifth fingers (#10817649#)
    • syndactyly of toes 2/3 and 4/5 (#10817649#)
    • brachydactyly type A

- 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#