Osteosclerosis-ichthyosis-premature ovarian failure syndrome

Orpha code: 75325OMIM code: 609993

Definition

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.

Disease data
Classification

Disease

Synonyms
Sclerosing dysplasia of bone-ichthyosis-premature ovarian failure syndrome
Stwardniająca dysplazja kości - rybia łuska - przedwczesne wygasanie czynności jajników
ORPHA code
75325
OMIM code
609993
ICD10 code
-
ICD11 code
-

No additional description.

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