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Heart defect - round face - congenital developmental delay

Orpha number ORPHA1355
Synonym(s) Sonoda syndrome
Prevalence -
Inheritance -
Age of onset -
ICD-10
  • Q87.8
OMIM
UMLS
  • C0796162
MeSH -
MedDRA -
SNOMED CT -

Summary

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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