Overview
Connective tissue dysplasia, Spellacy type (also known as Spellacy syndrome) is an extremely rare genetic condition that affects the body's connective tissues. Connective tissues are the materials that hold the body together, including skin, bones, cartilage, blood vessels, and other supporting structures. In this condition, these tissues do not develop or function properly, leading to a range of physical problems. This disorder was described in a very small number of patients and is characterized by features that may include short stature, skeletal abnormalities, joint problems, and distinctive facial features. Because connective tissue is found throughout the body, the condition can affect multiple organ systems. Due to the extreme rarity of this condition, there is very limited information available about its full range of symptoms, natural history, and optimal treatment approaches. There is currently no cure, and management focuses on treating individual symptoms as they arise. Patients typically require care from multiple specialists who work together to address the various aspects of the disease. Genetic counseling is recommended for affected families to understand the inheritance pattern and recurrence risk.
Also known as:
Key symptoms:
Short statureSkeletal abnormalitiesJoint problems or joint loosenessUnusual facial featuresSkin that may be unusually stretchy or fragileBone development problemsPossible vision problemsPossible heart or blood vessel abnormalities
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 Connective tissue dysplasia, Spellacy type.
View clinical trials →Clinical Trials
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Specialists
View all specialists →No specialists are currently listed for Connective tissue dysplasia, Spellacy type.
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 Connective tissue dysplasia, Spellacy type.
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 symptoms should I watch for that might indicate a new complication?,How often should my child (or I) have check-ups with each specialist?,Is genetic testing available that might identify the exact cause of this condition?,Are there any physical activities that should be avoided to protect the joints and bones?,What therapies (physical, occupational) would be most helpful right now?,Are there any research studies or registries we can participate in?,Can you connect us with other families affected by similar connective tissue conditions?
Common questions about Connective tissue dysplasia, Spellacy type
What is Connective tissue dysplasia, Spellacy type?
Connective tissue dysplasia, Spellacy type (also known as Spellacy syndrome) is an extremely rare genetic condition that affects the body's connective tissues. Connective tissues are the materials that hold the body together, including skin, bones, cartilage, blood vessels, and other supporting structures. In this condition, these tissues do not develop or function properly, leading to a range of physical problems. This disorder was described in a very small number of patients and is characterized by features that may include short stature, skeletal abnormalities, joint problems, and distinct
How is Connective tissue dysplasia, Spellacy type inherited?
Connective tissue dysplasia, Spellacy type follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Connective tissue dysplasia, Spellacy type typically begin?
Typical onset of Connective tissue dysplasia, Spellacy type is neonatal. Age of onset can vary across affected individuals.