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Feingold syndrome type 2

Disease definition

Feingold syndrome type 2 (FS2) is a rare inherited malformation syndrome characterized by skeletal abnormalities and mild intellectual disabilities similar to those seen in Feingold syndrome type 1 (FS1; see this term) but that lacks the manifestations of gastrointestinal atresia and short palpebral fissures.

ORPHA:391646

Classification level: Subtype of disorder
  • Synonym(s):
    • Brachydactyly-short stature-microcephaly syndrome
    • Brunner-Winter syndrome type 2
    • FGLDS2
    • FS2
    • MMT type 2
    • Microcephaly-digital anomalies-normal intelligence syndrome type 2
    • Microcephaly-intellectual disability-tracheoesophageal fistula syndrome type 2
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q87.8
  • OMIM: 614326
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

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