Steroid dehydrogenase deficiency-dental anomalies syndrome

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Steroid dehydrogenase deficiency-dental anomalies syndrome

Synonyms: Lyngstadaas syndrome

A rare metabolic liver disease characterized by progressive liver disease and early cirrhosis due to accumulation of toxic cholesterol metabolites which are detectable in bile plasma and urine in association with dental abnormalities such as general hypomineralization and enamel hypoplasia as well as occurrence of supernumerary teeth. There have been no further descriptions in the literature since 1996.

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 2024

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