Arterial tortuosity syndrome

Orpha code: 3342OMIM code: 208050

Definition

A rare autosomal recessive connective tissue disorder characterized by tortuosity and elongation of the large and medium-sized arteries and a propensity towards aneurysm formation, vascular dissection, and stenosis of the pulmonary arteries.

Disease data
Classification

Malformation syndrome

Synonyms
ATS
ATS
ORPHA code
3342
OMIM code
208050
ICD10 code
I77.1
ICD11 code
LD28.Y

No additional description.

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