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Congenital heart defect-round face-developmental delay syndrome

Disease definition

A very rare syndrome described in three sibs of one Japanese family and characterized by congenital heart disease, round face with depressed nasal bridge, small mouth, short stature, and relatively dark skin and typical dermatoglyphic anomalies, and intellectual deficit.

ORPHA:1355

Classification level: Disorder
  • Synonym(s):
    • Sonoda syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: -
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q87.8
  • OMIM: 270460
  • UMLS: C0796162
  • MeSH: C536680
  • GARD: 4905
  • MedDRA: -

  A summary on this disease is available in Deutsch (2012) Español (2012) Français (2012) Italiano (2012) Nederlands (2012)

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