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steroid dehydrogenase deficiency-dental anomalies syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

steroid dehydrogenase deficiency-dental anomalies syndrome

MONDO:0017904

Also known as:Lyngstadaas syndromesevere dental aberrations in familial steroid dehydrogenase deficiencysteroid dehydrogenase deficiency dental anomalies

Overview

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.

Clinical Presentation

Features include very common findings: Abnormal dental enamel morphology, Hepatic failure, Enamel hypoplasia, and Supernumerary tooth.

Organ System	Phenotype Count	Example Features
Digestive system	1	Hepatic failure

Explore clinical features

Diagnosis

Biomarker and diagnostic research for steroid dehydrogenase deficiency-dental anomalies syndrome has been reported in the published literature.

Prognosis

Phenotype severity distribution: 4 very common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for steroid dehydrogenase deficiency-dental anomalies syndrome.

24 publications have been identified in PubMed for steroid dehydrogenase deficiency-dental anomalies syndrome. Research spans Basic Science / Preclinical (38%), Case Report / Case Series (29%), and Review / Meta-Analysis (17%).

Research Type	Count	% of Total
Laboratory research	9	38%

Data assembled from 4 of 12 sources · Last updated Sep 20, 2026, 5:40 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:3196

GARD

Genetic and Rare Diseases Info Center

GARD:5015

Questions for Your Care Team

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steroid dehydrogenase deficiency-dental anomalies syndrome

Overview

Clinical Presentation

Explore clinical features

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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