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Feingold syndrome type 1

Disease definition

A rare, genetic congenital malformation syndrome characterized by digital anomalies (shortening of the 2nd and 5th middle phalanx of the hand, clinodactyly of the 5th finger, syndactyly of toes 2-3 and/or 4-5, thumb hypoplasia), microcephaly, facial dysmorphism (short palpebral fissures and micrognathia), gastrointestinal atresia (primarily esophageal and/or duodenal), and mild-to-moderate learning disability.

ORPHA:391641

Classification level: Subtype of disorder
  • Synonym(s):
    • Brunner-Winter syndrome type 1
    • Digital anomalies with short palpebral fissures and atresia of esophagus or duodenum type 1
    • FGLDS1
    • FS1
    • MMT type 1
    • MODED syndrome type 1
    • Microcephaly-digital anomalies-normal intelligence syndrome type 1
    • Microcephaly-intellectual disability-tracheoesophageal fistula syndrome type 1
    • Microcephaly-oculo-digito-esophageal-duodenal syndrome syndrome type 1
    • ODED syndrome type 1
    • Oculo-digito-esophageal-duodenal syndrome type 1
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: Antenatal, Neonatal
  • ICD-10: Q87.8
  • OMIM: 164280
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

Detailed information

Professionals

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.