Overview
Camptodactyly-fibrous tissue hyperplasia-skeletal anomalies syndrome (also sometimes referred to as Camptodactyly syndrome, Guadalajara type) is an extremely rare genetic condition that affects the bones, joints, and connective tissues of the body. The hallmark feature is camptodactyly, which means one or more fingers are permanently bent in a fixed position and cannot be fully straightened. In addition to the finger involvement, affected individuals develop an overgrowth of fibrous (scar-like) tissue in various parts of the body, along with a range of skeletal abnormalities. These skeletal problems can include short stature, abnormal curvature of the spine, unusual shape of the skull or facial bones, and other bone malformations. Because this syndrome is so rare, the full spectrum of symptoms and their severity can vary from person to person. Some individuals may have mild finger bending with only a few skeletal differences, while others may have more widespread involvement affecting their mobility and daily function. Facial features may also be distinctive, including a flat nasal bridge or other subtle differences. There is currently no cure for this condition. Treatment is supportive and focuses on managing individual symptoms. This may include physical therapy or occupational therapy to improve hand function, orthopedic interventions such as bracing or surgery for skeletal problems, and regular monitoring by a team of specialists. Early intervention and ongoing care can help maximize function and quality of life.
Also known as:
Key symptoms:
Permanently bent fingers that cannot be straightened (camptodactyly)Overgrowth of fibrous or scar-like tissue under the skinShort statureAbnormal bone developmentUnusual skull or facial bone shapeFlat nasal bridgeSpinal curvature or vertebral abnormalitiesLimited joint movementDistinctive facial featuresUnderdeveloped musclesHearing difficulties in some casesIntellectual disability in some cases
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-fibrous tissue hyperplasia-skeletal anomalies syndrome.
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Specialists
View all specialists →No specialists are currently listed for Camptodactyly-fibrous tissue hyperplasia-skeletal 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 Camptodactyly-fibrous tissue hyperplasia-skeletal anomalies syndrome.
Community
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
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 specific skeletal abnormalities does my child have, and how might they change over time?,Would genetic testing help us understand the cause and recurrence risk for our family?,What therapies (physical, occupational) do you recommend, and how often?,Are there any surgical options that could improve hand function or correct skeletal problems?,What school accommodations should we request for our child?,How often should we schedule follow-up imaging and specialist visits?,Are there any research studies or registries we should consider joining?
Common questions about Camptodactyly-fibrous tissue hyperplasia-skeletal anomalies syndrome
What is Camptodactyly-fibrous tissue hyperplasia-skeletal anomalies syndrome?
Camptodactyly-fibrous tissue hyperplasia-skeletal anomalies syndrome (also sometimes referred to as Camptodactyly syndrome, Guadalajara type) is an extremely rare genetic condition that affects the bones, joints, and connective tissues of the body. The hallmark feature is camptodactyly, which means one or more fingers are permanently bent in a fixed position and cannot be fully straightened. In addition to the finger involvement, affected individuals develop an overgrowth of fibrous (scar-like) tissue in various parts of the body, along with a range of skeletal abnormalities. These skeletal pr
How is Camptodactyly-fibrous tissue hyperplasia-skeletal anomalies syndrome inherited?
Camptodactyly-fibrous tissue hyperplasia-skeletal anomalies syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Camptodactyly-fibrous tissue hyperplasia-skeletal anomalies syndrome typically begin?
Typical onset of Camptodactyly-fibrous tissue hyperplasia-skeletal anomalies syndrome is neonatal. Age of onset can vary across affected individuals.