Osteosclerosis-ichthyosis-premature ovarian failure syndrome

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Synonyms: Sclerosing dysplasia of bone-ichthyosis-premature ovarian failure syndrome

A rare genetic disease characterized by sclerosing dysplasia affecting the diaphyseal and metaphyseal regions of the long bones as well as the skull and metacarpals in association with skin changes like those seen in ichthyosis vulgaris and premature ovarian failure with bilateral hypoplasia of the ovaries. Patients present in adulthood primarily with swelling of the extremities and occasional mild pain in the legs.

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 June 2024

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