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Results 1 - 10 of 10 for Esophageal disorder
  1. SOX2 anophthalmia syndrome 
    ... phenomenon is called germline mosaicism. AEG syndrome Anophthalmia-esophageal-genital syndrome SOX2-related eye disorders Syndromic microphthalmia 3 Genetic Testing Registry: Anophthalmia/microphthalmia- ...
    https://medlineplus.gov/.../condition/sox2-anophthalmia-syndrome - Genetics
  2. Mandibulofacial dysostosis with microcephaly 
    ... can cause lung damage from repeated exposure to esophageal fluids. MFDM is a rare disorder; its exact prevalence is unknown. More than 60 ...
    https://medlineplus.gov/...dibulofacial-dysostosis-with-microcephaly - Genetics
  3. Esophageal atresia/tracheoesophageal fistula 
    ... one affected individual in a family. EA/TEF Esophageal atresia National Organization for Rare Disorders (NORD) ClinicalTrials.gov TRACHEOESOPHAGEAL FISTULA WITH OR WITHOUT ...
    https://medlineplus.gov/...phageal-atresia-tracheoesophageal-fistula - Genetics
  4. Opitz G/BBB syndrome 
    ... occur in people with no history of the disorder in their family. Hypertelorism with esophageal abnormalities and hypospadias Hypertelorism-hypospadias sydrome Hypospadias-dysphagia ...
    https://medlineplus.gov/genetics/condition/opitz-g-bbb-syndrome - Genetics
  5. Feingold syndrome 
    ... in each cell is sufficient to cause the disorder. Brunner-Winter syndrome Microcephaly-mesobrachyphalangy-tracheoesophageal fistula (MMT) syndrome Microcephaly-oculo-digito-esophageal-duodenal (MODED) syndrome Oculo-digito-esophagoduodental (ODED) syndrome ...
    https://medlineplus.gov/genetics/condition/feingold-syndrome - Genetics
  6. VACTERL association 
    VACTERL association is a disorder ... with VACTERL association typically have at least three of these characteristic features. ...
    https://medlineplus.gov/genetics/condition/vacterl-association - Genetics
  7. EFTUD2 gene 
    ... who have mandibulofacial dysostosis with microcephaly (MFDM). This disorder causes malformations of the head and face, intellectual disability, and abnormalities affecting other areas of the body. These abnormalities include esophageal atresia, which is a blockage of the esophagus, ...
    https://medlineplus.gov/genetics/gene/eftud2 - Genetics
  8. Cartilage-hair hypoplasia 
    ... Affected individuals may have Hirschsprung disease, an intestinal disorder that causes severe constipation, intestinal blockage, and enlargement of the colon. Narrowing of the anus (anal stenosis) or blockage of the esophagus (esophageal atresia) may also occur. Cartilage-hair hypoplasia occurs ...
    https://medlineplus.gov/genetics/condition/cartilage-hair-hypoplasia - Genetics
  9. FAS gene 
    ... of death pathway genes FAS and FASL in esophageal squamous-cell carcinoma. J Natl ... A rare disorder providing clues about normal tolerance. Autoimmun Rev. 2010 ...
    https://medlineplus.gov/genetics/gene/fas - Genetics
  10. Systemic scleroderma 
    ... scleroderma, defined by the tissues affected in the disorder. In one type of ... motility dysfunction, sclerodactyly, and telangiectasia. In another type ...
    https://medlineplus.gov/genetics/condition/systemic-scleroderma - Genetics