steroid dehydrogenase deficiency-dental anomalies syndrome
Findings
No curated finding names steroid dehydrogenase deficiency-dental anomalies syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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.
Definition from the Mondo Disease Ontology (MONDO:0017904), read 2026-09-29. CC BY 4.0.
Features
4 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormal dental enamel morphologyHPOHP:0000682
- Very frequent (80% to 99% of cases)
- Enamel hypoplasiaHPOHP:0006297
- Very frequent (80% to 99% of cases)
- Hepatic failureHPOHP:0001399
- Very frequent (80% to 99% of cases)
- Supernumerary toothHPOHP:0011069
- Very frequent (80% to 99% of cases)
Where it sits
Other names
1 name
Resolves to: steroid dehydrogenase deficiency-dental anomalies syndrome
- Also called
- Lyngstadaas syndrome