Overview
Ichthyosis-oral and digital anomalies syndrome, also sometimes called Ichthyosis with oral and digital anomalies or Schubert-Bartsocas syndrome in some references, is a very rare inherited condition that affects the skin, mouth, and fingers or toes. The word 'ichthyosis' refers to dry, scaly skin that can look like fish scales. In this syndrome, that skin problem is combined with unusual features in the mouth (such as abnormal gums or teeth) and in the hands or feet (such as fused or extra fingers and toes, or webbing between digits). People with this condition are usually affected from birth or very early in life. The skin can be thickened, rough, and uncomfortable, and may cover large areas of the body. The mouth and dental problems can make eating and speaking more difficult. The finger and toe differences may affect how well a person can grip or walk. There is currently no cure for this syndrome. Treatment focuses on managing symptoms — keeping the skin moisturized and protected, addressing dental needs, and sometimes surgery to separate fused digits. A team of specialists is usually needed to provide the best care. Because this condition is so rare, treatment plans are highly individualized.
Also known as:
Key symptoms:
Dry, thick, scaly skin covering large areas of the body (ichthyosis)Abnormal or missing teethOvergrowth or thickening of the gumsFused fingers or toes (syndactyly)Extra fingers or toes (polydactyly)Webbing between fingers or toesRough, uncomfortable skin that may crack or peelDifficulty with fine hand movements due to digit abnormalitiesPossible problems with eating or speaking due to mouth changes
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Ichthyosis-oral and digital anomalies syndrome.
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Specialists
View all specialists →No specialists are currently listed for Ichthyosis-oral and digital 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 Ichthyosis-oral and digital anomalies syndrome.
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Caregiver Resources
NORD Caregiver Resources
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Mental Health Support
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Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
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.What genetic tests should we do to confirm the diagnosis and understand the cause?,What is the best daily skin care routine for my specific situation?,Should my fingers or toes be evaluated for surgery, and if so, when is the best time?,What dental specialists should I see, and how often?,Are there any clinical trials or research studies I could participate in?,What should I watch for that would mean I need urgent medical attention?,Are other family members at risk, and should they be tested?
Common questions about Ichthyosis-oral and digital anomalies syndrome
What is Ichthyosis-oral and digital anomalies syndrome?
Ichthyosis-oral and digital anomalies syndrome, also sometimes called Ichthyosis with oral and digital anomalies or Schubert-Bartsocas syndrome in some references, is a very rare inherited condition that affects the skin, mouth, and fingers or toes. The word 'ichthyosis' refers to dry, scaly skin that can look like fish scales. In this syndrome, that skin problem is combined with unusual features in the mouth (such as abnormal gums or teeth) and in the hands or feet (such as fused or extra fingers and toes, or webbing between digits). People with this condition are usually affected from birth
How is Ichthyosis-oral and digital anomalies syndrome inherited?
Ichthyosis-oral and digital anomalies syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Ichthyosis-oral and digital anomalies syndrome typically begin?
Typical onset of Ichthyosis-oral and digital anomalies syndrome is neonatal. Age of onset can vary across affected individuals.