Feingold syndrome
MIM.164280 2p24-p23
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