Overview
Steroid dehydrogenase deficiency-dental anomalies syndrome is an extremely rare condition that combines problems with how the liver processes certain steroid hormones with unusual dental features. The condition is sometimes referred to by its Orphanet designation (ORPHA:3196). In this syndrome, the body has trouble with an enzyme called steroid dehydrogenase, which plays a role in breaking down or converting steroid compounds in the liver. This enzyme problem can lead to liver-related complications classified under liver disease (ICD-10 K76.8). At the same time, affected individuals develop dental anomalies, which may include abnormally shaped teeth, missing teeth, or other problems with tooth development. Because this syndrome is so rare, very little has been published about it in the medical literature, and the full range of symptoms, the exact genetic cause, and the best treatment approaches are not yet well understood. Management is generally supportive and focuses on treating liver-related symptoms and addressing dental problems through specialized dental care. Patients benefit from a team of specialists who can monitor liver function and provide appropriate dental treatment. Research into this condition is very limited, and families affected by it are encouraged to work closely with clinical geneticists and hepatologists to stay informed about any new findings.
Also known as:
Key symptoms:
Liver problems related to steroid processingAbnormally shaped or formed teethMissing teeth or delayed tooth developmentPossible enlargement of the liverAbnormal liver function test resultsDental enamel defectsPossible jaundice or yellowing of the skin
Clinical phenotype terms (4)— hover any for plain English
Childhood
Begins in childhood, roughly ages 1 to 12
Treatments
No FDA-approved treatments are currently listed for Steroid dehydrogenase deficiency-dental anomalies syndrome.
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Specialists
View all specialists →No specialists are currently listed for Steroid dehydrogenase deficiency-dental anomalies syndrome.
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Steroid dehydrogenase deficiency-dental anomalies syndrome.
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Caregiver Resources
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Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.How severe is the liver involvement in my case or my child's case, and what monitoring is needed?,Are there specific foods, medications, or activities we should avoid to protect the liver?,What dental treatments are recommended, and when should they begin?,Is genetic testing available or recommended for our family?,How often should liver function tests and dental check-ups be scheduled?,Are there any clinical trials or research studies we could participate in?,Should other family members be screened for this condition?
Common questions about Steroid dehydrogenase deficiency-dental anomalies syndrome
What is Steroid dehydrogenase deficiency-dental anomalies syndrome?
Steroid dehydrogenase deficiency-dental anomalies syndrome is an extremely rare condition that combines problems with how the liver processes certain steroid hormones with unusual dental features. The condition is sometimes referred to by its Orphanet designation (ORPHA:3196). In this syndrome, the body has trouble with an enzyme called steroid dehydrogenase, which plays a role in breaking down or converting steroid compounds in the liver. This enzyme problem can lead to liver-related complications classified under liver disease (ICD-10 K76.8). At the same time, affected individuals develop de
At what age does Steroid dehydrogenase deficiency-dental anomalies syndrome typically begin?
Typical onset of Steroid dehydrogenase deficiency-dental anomalies syndrome is childhood. Age of onset can vary across affected individuals.