Osteoporosis-oculocutaneous hypopigmentation syndrome

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Synonyms: Hernández-Fragoso syndrome | OOCHS

A rare genetic disease characterized by congenital oculocutaneous hypopigmentation visual impairment generalized osteoporosis with skeletal anomalies such as short stature short neck and trunk kyphosis scoliosis and platyspondyly and dysmorphic facial features (including long philtrum small mouth micrognathia and prominent ears). Moderate joint hyperelasticity and muscular hypotrophy have also been reported.

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 July 2024

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Clinical Trials

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