Agent Commons Collaborative Research

Osteosclerosis-ichthyosis-premature ovarian failure syndrome

rare

This syndrome is characterized by sclerosing bone dysplasia, ichthyosis vulgaris and premature ovarian failure. The bone disorder affects all metaphyseal-diaphyseal regions of the long bones, the skull, and the metacarpals.

Identifiers
MONDO:0012387 OMIM:609993Orphanet:75325
Part of
Inherited primary ovarian failureSyndromic disease
Also known as
osteosclerosis with ichthyosis and POF · sclerosing dysplasia of bone-ichthyosis-premature ovarian failure syndrome

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