BCARD syndrome

A connective tissue disease characterized by bone abnormalities, including low bone mineral density, scoliosis, contractures of the fingers and other joints, prominent knees, and rare pathologic fractures; cataract and other ocular abnormalities, including hig

A connective tissue disease characterized by bone abnormalities, including low bone mineral density, scoliosis, contractures of the fingers and other joints, prominent knees, and rare pathologic fractures; cataract and other ocular abnormalities, including high myopia, optically empty vitreous, and risk for retinal detachment; risk of arterial rupture due to vascular aneurysm or dissection; and sensorineural deafness that has_material_basis_in homozygous or compound heterozygous mutation in the PLOD3 gene on chromosome 7q22.

Signs and symptoms

• Anteverted nares
• Nail dysplasia
• Short nose
• J-shaped sella turcica
• Thenar muscle atrophy
• Flat face
• Hypoplasia of the capital femoral epiphysis
• Cataract
• Contracture of the proximal interphalangeal joint of the 2nd finger
• Osteopenia