Orphanet: Steroid dehydrogenase deficiency dental anomalies syndrome

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Steroid dehydrogenase deficiency-dental anomalies syndrome

Disease definition

Steroid dehydrogenase deficiency-dental anomalies syndrome is an autosomal recessive liver disease which was associated with numerical dental aberrations in a consanguineous Arabi Saudi family. This association suggests that the same gene is involved in both defects. General hypomineralisation and enamel hypoplasia found in this family is thought to be secondary to malabsorption due to liver disease.


Classification level: Disorder
  • Synonym(s):
    • Lyngstadaas syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Childhood
  • ICD-10: K76.8
  • OMIM: -
  • UMLS: C2931508
  • MeSH: -
  • GARD: 5015
  • MedDRA: -
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