Bone fragility with contractures, arterial rupture, and deafness

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.

Also known as: bone fragility with contractures, arterial rupture, and deafness, bone fragility-contractures-arterial rupture-deafness syndrome, connective tissue disorder due to LH3 deficiency, connective tissue disorder due to lysyl hydroxylase-3 deficiency, LH3 deficiency, lysyl Hydroxylase 3 deficiency

0 clinical trials for this condition and its sub-types, 0 tagged with Bone fragility with contractures, arterial rupture, and deafness itself.