has material basis in germline mutation in PLOD3 bone fragility with contractures, arterial rupture, and deafness https://www.malacards.org/card/bcard_syndrome https://www.malacards.org/card/bone_fragility_with_contractures_arterial_rupture_and_deafness Orphanet:300284 bone fragility with contractures, arterial rupture, and deafness bone fragility-contractures-arterial rupture-deafness syndrome UMLS:C2676285 GARD:0017362 MEDGEN:382811 MESH:C567320 A rare, genetic disease, caused by lack of lysyl hydrohylase 3 (LH3) activity, characterized by multiple tissue and organ involvement, including skeletal abnormalities (club foot, progressive scoliosis, osteopenia, pathologic fractures), ocular involvement (flat retinae, myopia, cataracts) and hair, nail and skin anomalies (coarse, abnormally distributed hair, skin blistering, reduced palmar creases, hypoplastic nails). Patients also present intrauterine growth retardation, facial dysmorphism (flat facial profile, low-set ears, shallow orbits, short and upturned nose, downturned corners of mouth) and joint flexion contractures. Growth and developmental delay, bilateral sensorineural deafness, friable diaphragm and later-onset spontaneous vascular ruptures are additional reported features. OMIM:612394 DOID:0061197 SCTID:763318007 MONDO:0012892 connective tissue disorder due to lysyl hydroxylase-3 deficiency connective tissue disorder due to LH3 deficiency developmental defect during embryogenesis hereditary disorder of connective tissue