Feingold syndrome

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