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Generalized arterial calcification of infancy

ORPHA:51608· ICD-10 Q28.8

Definition

A rare genetic vascular disease characterized by early onset (between in utero to infancy) of extensive calcification and stenosis of the large and medium sized arteries. Presentation is typically with respiratory distress, congestive heart failure and systemic hypertension.

Prevalence
1-9 / 1 000 000
Inheritance
Autosomal dominant, Autosomal recessive
Age of onset
Antenatal, Infancy, Neonatal