Arterial tortuosity syndrome
- Autosomal recessive condition of connective tissue associated with mutations in SLC2A10 (solute carrier family 2 member 10)
- Features overlapping with Marfan syndrome include numerous skeletal findings (eg, joint laxity, scoliosis, pectus excavatum/carinatum, arachnodactyly, high-arched palate with dental crowding), easy development of hernias (eg, inguinal/abdominal wall, hiatal, diaphragmatic), and ocular involvement (eg, myopia); typically patients exhibit an increased risk of aneurysms and dissections of aorta and/or pulmonary artery
- Differentiate from Marfan syndrome by occurrence of severe arterial tortuosity, craniofacial involvement with characteristic facial dysmorphism (eg, down-slanted palpebral fissures, convex nasal ridge, midface retrusion), knee or elbow contractures, camptodactyly, eye keratoconus, and soft or doughy skin
- Definitive diagnosis is clinical, as no formal diagnostic criteria have been established; use of genetic testing to identify a known pathologic SLC2A10 variant in a proband is confirmatory
