Overview
Camptodactyly-taurinuria syndrome is an extremely rare genetic condition that combines two main features: camptodactyly and taurinuria. Camptodactyly refers to a permanent bending or curving of one or more fingers, most commonly the little (pinky) finger, which cannot be fully straightened. Taurinuria means that unusually high levels of the amino acid taurine are found in the urine. This condition was first described in a small number of families and remains very poorly understood due to the limited number of reported cases worldwide. The bent fingers are typically present from birth or early childhood and may affect one or both hands. The degree of finger bending can vary from mild to more noticeable. The excess taurine in the urine is generally detected through specialized urine testing and does not usually cause obvious symptoms on its own. Some affected individuals may have additional minor skeletal or physical differences, but the condition is generally not associated with severe medical complications or intellectual disability. Because this syndrome is so rare, there is no specific cure or targeted treatment. Management focuses on addressing the finger contractures if they interfere with hand function. Physical therapy, splinting, or in some cases surgery may be considered to improve finger movement. The elevated taurine in the urine is typically monitored but does not usually require direct treatment. Genetic counseling is recommended for affected families to understand the inheritance pattern and recurrence risk.
Also known as:
Key symptoms:
Permanently bent fingers that cannot be fully straightenedHigh levels of taurine in the urineStiff finger jointsDifficulty fully extending one or more fingersFinger bending most commonly affecting the pinky fingerPossible mild skeletal differences
Clinical phenotype terms (4)— hover any for plain English
Autosomal dominant
Passed on from just one parent; each child has about a 50% chance of inheriting it
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Camptodactyly-taurinuria syndrome.
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Specialists
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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 Camptodactyly-taurinuria syndrome.
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Caregiver Resources
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Questions for your doctor
Bring these to your next appointment
- Q1.How severe is the finger bending, and is it likely to get worse over time?,Would splinting or physical therapy help improve finger movement?,Is surgery recommended for my child's fingers, and what are the risks and benefits?,What does the elevated taurine in the urine mean for my child's health?,Should we pursue genetic testing, and what could it tell us?,Are there any other health problems we should watch for with this condition?,Is genetic counseling recommended for our family regarding future pregnancies?
Common questions about Camptodactyly-taurinuria syndrome
What is Camptodactyly-taurinuria syndrome?
Camptodactyly-taurinuria syndrome is an extremely rare genetic condition that combines two main features: camptodactyly and taurinuria. Camptodactyly refers to a permanent bending or curving of one or more fingers, most commonly the little (pinky) finger, which cannot be fully straightened. Taurinuria means that unusually high levels of the amino acid taurine are found in the urine. This condition was first described in a small number of families and remains very poorly understood due to the limited number of reported cases worldwide. The bent fingers are typically present from birth or early
How is Camptodactyly-taurinuria syndrome inherited?
Camptodactyly-taurinuria syndrome follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Camptodactyly-taurinuria syndrome typically begin?
Typical onset of Camptodactyly-taurinuria syndrome is neonatal. Age of onset can vary across affected individuals.