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Синдром вродженої вади серця - круглого обличчя - затримки розвитку

ORPHA:1355· ICD-10 Q87.8· Congenital heart defect-round face-developmental delay syndrome

Визначення(English summary)

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.

Поширеність
<1 / 1 000 000
Вік початку
Infancy, Neonatal