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Congenital heart defect-round face-developmental delay syndrome

Synonym(s) Sonoda syndrome
Prevalence -
Inheritance -
Age of onset -
  • Q87.8
  • C0796162
MeSH -
MedDRA -


Disease definition

Heart defect – round face – congenital developmental delay is 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.

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