Overview
X-linked dominant chondrodysplasia, Chassaing-Lacombe type, is an extremely rare genetic bone disorder that primarily affects the development of cartilage and bone (chondrodysplasia). This condition follows an X-linked dominant inheritance pattern, meaning the genetic change responsible is located on the X chromosome. Because of this inheritance pattern, the condition tends to be lethal in males before or shortly after birth, while affected females may survive but show significant skeletal abnormalities. The disease is characterized by severe problems with bone and cartilage formation that become apparent before birth or at the time of delivery. Key features can include very short limbs (micromelia), a small chest, abnormal vertebrae, and distinctive facial features. The rib cage may be underdeveloped, which can lead to serious breathing difficulties. Other findings may include mineralization defects of the bones and overall short stature. Because this condition is so rare, there is no specific cure or targeted treatment available. Management is supportive and focuses on addressing breathing problems, skeletal complications, and other symptoms as they arise. A team of specialists is typically needed to provide the best possible care. Genetic counseling is strongly recommended for affected families to understand recurrence risks and reproductive options.
Key symptoms:
Very short limbs at birthSmall and narrow chestBreathing difficultiesAbnormal bone developmentShort statureDistinctive facial featuresAbnormal spine or vertebraePoor bone mineralizationShortened fingers and toesFlat facial profileUnderdeveloped rib cage
Clinical phenotype terms (24)— hover any for plain English
X-linked dominant
Carried on the X chromosome; a single copy can cause the condition
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for X-linked dominant chondrodysplasia, Chassaing-Lacombe type.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for X-linked dominant chondrodysplasia, Chassaing-Lacombe type at this time.
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Specialists
View all specialists →No specialists are currently listed for X-linked dominant chondrodysplasia, Chassaing-Lacombe 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 X-linked dominant chondrodysplasia, Chassaing-Lacombe 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 is the specific genetic change causing this condition in our family?,What is the expected outlook for my child based on the severity of their symptoms?,What respiratory support or monitoring will my child need?,Are there any clinical trials or research studies we could participate in?,What specialists should be part of our care team?,What are the chances of this condition occurring again in a future pregnancy?,What therapies or interventions can help improve my child's quality of life?
Common questions about X-linked dominant chondrodysplasia, Chassaing-Lacombe type
What is X-linked dominant chondrodysplasia, Chassaing-Lacombe type?
X-linked dominant chondrodysplasia, Chassaing-Lacombe type, is an extremely rare genetic bone disorder that primarily affects the development of cartilage and bone (chondrodysplasia). This condition follows an X-linked dominant inheritance pattern, meaning the genetic change responsible is located on the X chromosome. Because of this inheritance pattern, the condition tends to be lethal in males before or shortly after birth, while affected females may survive but show significant skeletal abnormalities. The disease is characterized by severe problems with bone and cartilage formation that be
How is X-linked dominant chondrodysplasia, Chassaing-Lacombe type inherited?
X-linked dominant chondrodysplasia, Chassaing-Lacombe type follows a x-linked dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does X-linked dominant chondrodysplasia, Chassaing-Lacombe type typically begin?
Typical onset of X-linked dominant chondrodysplasia, Chassaing-Lacombe type is neonatal. Age of onset can vary across affected individuals.