Table 1.

Autosomal Dominant Syndromic EA/TEF

SyndromeGeneClinical FindingsSelected OMIM Links
Anophthalmia-esophageal-genital syndromeSOX2
  • Anophthalmia/microphthalmia
  • EA/TEF
  • Urogenital anomalies
184429
CHARGE syndromeCHD7
  • Coloboma of the eye
  • Cardiac anomalies
  • Choanal atresia
  • Intellectual disability
  • Growth retardation
  • Genital anomalies
  • Ear anomalies
  • Hearing loss
  • EA/TEF
608892
214800
Feingold syndromeMYCN
  • Esophageal and duodenal atresias
  • Microcephaly
  • Learning disabilities
  • Syndactyly
  • Cardiac defects
164840
164280
Pallister-Hall syndromeGLI3
  • Hypothalamic hamartoma
  • Central and postaxial polydactyly
  • Imperforate anus
  • Renal anomalies
  • Bifid epiglottis
  • Tracheal clefts
  • EA/TEF (rare)
165240
146510

From: Esophageal Atresia/Tracheoesophageal Fistula Overview

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Pagon RA, Adam MP, Ardinger HH, et al., editors.
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