Synonyms: Bone fragility-contractures-arterial rupture-deafness syndrome | Bone fragility-contractures-arterial rupture-hearing loss syndrome | Connective tissue disorder due to LH3 deficiency
Connective tissue disorder due to lysyl hydroxylase-3 deficiency is 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.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version March 2026
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