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.
MONDO:0019755
developmental defect during embryogenesis
is_a
MONDO:0023603
hereditary disorder of connective tissue
is_a
bone fragility with contractures, arterial rupture, and deafness
exact
bone fragility-contractures-arterial rupture-deafness syndrome
exact
connective tissue disorder due to LH3 deficiency
exact
connective tissue disorder due to lysyl hydroxylase-3 deficiency
exact