Polyvalvular heart disease syndrome

Orpha code: 228410OMIM code:

Definition

A rare multiple congenital anomalies syndrome characterized by the combination of cardiac anomalies (most commonly mitral valve defects and cardiomyopathy), short stature, facial dysmorphism and sometimes mild developmental delay.

Disease data
Classification

Malformation syndrome

Synonyms
PHD syndrome
Zespół PHD
ORPHA code
228410
OMIM code
-
ICD10 code
Q87.8
ICD11 code
-

No additional description.

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