Steroid dehydrogenase deficiency-dental anomalies syndrome

Orpha code: 3196OMIM code:

Definition

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.

Disease data
Classification

Disease

Synonyms
Lyngstadaas syndrome
Zespół Lyngstadaasa
ORPHA code
3196
OMIM code
-
ICD10 code
K76.8
ICD11 code
-

No additional description.

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