Congenital heart defect-round face-developmental delay syndrome

Orpha code: 1355OMIM code: 270460

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.

Disease data
Classification

Malformation syndrome

Synonyms
Sonoda syndrome
Zespół Sonoda
ORPHA code
1355
OMIM code
270460
ICD10 code
Q87.8
ICD11 code
-

No additional description.

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