Living with Steroid dehydrogenase deficiency-dental anomalies syndrome
A rare liver condition with worsening liver disease in childhood and changes in the teeth.
Understanding Steroid dehydrogenase deficiency-dental anomalies syndrome
Liver disease gets worse over time, with early scarring (cirrhosis) caused by a buildup of toxic cholesterol by-products. These can be found in bile, blood, and urine. Teeth may be weakly formed, with thin enamel and extra teeth. GARD notes no further descriptions in the literature since 1996.
Signs & symptoms
Symptoms vary from person to person. GARD lists these:
- Worsening liver disease
- Liver scarring (cirrhosis)
- Thin tooth enamel
- Weak or underformed teeth
- Extra teeth
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include digestive system specialists, genetic specialists and gum, teeth and mouth specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- Digestive system specialists (gastroenterologists); Genetic specialists (geneticists); Gum, teeth and mouth specialists (odontologists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with rare disease patient organizations for support
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in genes (variants) cause this condition. It is autosomal recessive, meaning a child inherits a changed copy of a gene from each parent. GARD doesn't list which gene.
Also known as: lyngstadaas syndrome; steroid dehydrogenase deficiency and dental anomaly syndrome
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Steroid dehydrogenase deficiency-dental anomalies syndrome.
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