Overview
Camptodactyly syndrome, Guadalajara type 3 is a very rare genetic condition that was first described in families from Guadalajara, Mexico. The name 'camptodactyly' refers to fingers that are permanently bent or curved and cannot be fully straightened. This is one of the most noticeable features of the condition. There are three types of Guadalajara camptodactyly syndrome (types 1, 2, and 3), and type 3 is the rarest of the three. Beyond the bent fingers, this condition can affect multiple parts of the body. People with this syndrome may have distinctive facial features, skeletal differences, and problems with growth. The joints, bones, and connective tissues are primarily involved. Because this condition is so rare, much of what doctors know comes from a very small number of reported cases, mostly from Mexican families. There is currently no cure for Camptodactyly syndrome, Guadalajara type 3. Treatment focuses on managing individual symptoms. Physical therapy and occupational therapy can help improve hand function and daily activities. Orthopedic care may be needed for bone and joint issues. A team of specialists typically works together to support each person's unique needs.
Key symptoms:
Permanently bent or curved fingers that cannot be fully straightened (camptodactyly)Distinctive facial features such as a flat face or unusual facial structureShort stature or slow growthJoint stiffness or limited movement in multiple jointsSkeletal differences affecting the hands, feet, or spineBroad or unusual-shaped noseLow-set or unusually shaped earsWidely spaced eyesSmall or underdeveloped jaw
Clinical phenotype terms (27)— hover any for plain English
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 Camptodactyly syndrome, Guadalajara type 3.
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Specialists
View all specialists →No specialists are currently listed for Camptodactyly syndrome, Guadalajara type 3.
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 syndrome, Guadalajara type 3.
Community
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
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 testing do you recommend to confirm the diagnosis and identify the gene involved?,What therapies will help most with my child's hand function and daily activities?,Are there any other specialists I should see as part of a care team?,What should I watch for as my child grows that might indicate new or worsening symptoms?,Are there any clinical trials or research studies we could participate in?,How will this condition affect my child's ability to attend school and participate in activities?,What are the chances that other family members or future children could be affected?
Common questions about Camptodactyly syndrome, Guadalajara type 3
What is Camptodactyly syndrome, Guadalajara type 3?
Camptodactyly syndrome, Guadalajara type 3 is a very rare genetic condition that was first described in families from Guadalajara, Mexico. The name 'camptodactyly' refers to fingers that are permanently bent or curved and cannot be fully straightened. This is one of the most noticeable features of the condition. There are three types of Guadalajara camptodactyly syndrome (types 1, 2, and 3), and type 3 is the rarest of the three. Beyond the bent fingers, this condition can affect multiple parts of the body. People with this syndrome may have distinctive facial features, skeletal differences,
How is Camptodactyly syndrome, Guadalajara type 3 inherited?
Camptodactyly syndrome, Guadalajara type 3 follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Camptodactyly syndrome, Guadalajara type 3 typically begin?
Typical onset of Camptodactyly syndrome, Guadalajara type 3 is neonatal. Age of onset can vary across affected individuals.