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Polyvalvular heart disease syndrome

Orpha number ORPHA228410
Synonym(s) PHD syndrome
Prevalence <1 / 1 000 000
Inheritance
  • Autosomal dominant
Age of onset Neonatal/infancy
ICD-10
  • Q87.8
OMIM -
UMLS -
MeSH -
MedDRA -
SNOMED CT -

Summary

Polyvalvular heart disease syndrome is a recently described syndrome characterized by the combination of polyvalvular heart disease, short stature, facial anomalies and intellectual deficit.

Less than 15 cases have been reported.

Dysplasia may involve the mitral, tricuspidal, aortic and pulmonary valves. Dysmorphic facial anomalies are usually mild, vary among families and include a dolicocephalic face, broad forehead, ptosis, prominent nose, crowded teeth, high-arched palate and posteriorly angulated and everted ears. The severity of short stature is variable, as is the presence of intellectual deficit.

The condition seems to be transmitted as an autosomal dominant trait.


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