BCARD syndrome is an autosomal recessive connective tissue disorder 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. Affected individuals also exhibit recognizable craniofacial dysmorphisms, and variable skin features have been observed, including reduced palmar creases, soft skin with easy bruising, and blistering. Developmental delay, which is present in most patients, may be attributable to sensory deficits or medical complications (Ewans et al., 2019).

Ehlers-Danlos syndrome classic-like-3 (EDSCLL3) is an autosomal dominant connective tissue disorder characterized by joint hypermobility and frequent joint dislocations, atrophic scarring, prolonged bleeding time, and age-related aortic dilatation and rupture (Hadar et al., 2024). For a discussion of genetic heterogeneity of classic-like Ehlers-Danlos syndrome, see 606408. For a discussion of the classificiation of Ehlers-Danlos syndrome, see EDSCL1 (130000).