Overview
Blomstrand lethal chondrodysplasia (also called Blomstrand osteochondrodysplasia or Blomstrand chondrodystrophy) is an extremely rare and severe bone development disorder that is present before birth. It is caused by changes in a gene that controls how the body responds to a hormone called parathyroid hormone-related protein (PTHrP). This hormone plays a critical role in guiding the normal growth and development of cartilage and bone in a developing baby. In babies with this condition, the bones develop in an abnormal way during pregnancy. The cartilage that should slowly turn into bone does so far too quickly and in a disorganized manner. This leads to very short, dense, and abnormally shaped bones throughout the body. The chest is usually very small and underdeveloped, which prevents the lungs from growing properly. Because of the severely underdeveloped lungs and chest, babies born with Blomstrand lethal chondrodysplasia are not able to breathe on their own. This condition is considered lethal, meaning affected babies are typically stillborn or survive only briefly after birth. There is currently no cure or effective treatment. Diagnosis is usually made before birth through imaging or after birth through physical examination and genetic testing.
Also known as:
Key symptoms:
Extremely short limbs (arms and legs much shorter than normal)Very short stature overallAbnormally dense and hard bones visible on X-rayVery small, narrow chestUnderdeveloped lungsAbnormal facial features including a flat faceShort neckAbnormal development of teeth (teeth may be present at birth or abnormally formed)Swelling of the body due to fluid buildup (hydrops fetalis)Stillbirth or death shortly after birth due to inability to breathe
Clinical phenotype terms (37)— 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 Blomstrand lethal chondrodysplasia.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for Blomstrand lethal chondrodysplasia at this time.
New trials open frequently. Follow this disease to get notified.
Specialists
View all specialists →No specialists are currently listed for Blomstrand lethal chondrodysplasia.
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 Blomstrand lethal chondrodysplasia.
Community
No community posts yet. Be the first to share your experience with Blomstrand lethal chondrodysplasia.
Start the conversation →Latest news about Blomstrand lethal chondrodysplasia
No recent news articles for Blomstrand lethal chondrodysplasia.
Follow this condition to be notified when news becomes available.
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 genetic testing should be done to confirm this diagnosis in our baby and in us as parents?,What is the chance that a future pregnancy would be affected by this condition?,Can we test a future pregnancy early to find out if it is affected?,What should we expect during delivery and immediately after birth?,Are there palliative care or comfort care options available for our baby?,Should we consider a post-mortem examination, and what information would it provide?,Where can we find emotional support and connect with other families who have experienced this?
Common questions about Blomstrand lethal chondrodysplasia
What is Blomstrand lethal chondrodysplasia?
Blomstrand lethal chondrodysplasia (also called Blomstrand osteochondrodysplasia or Blomstrand chondrodystrophy) is an extremely rare and severe bone development disorder that is present before birth. It is caused by changes in a gene that controls how the body responds to a hormone called parathyroid hormone-related protein (PTHrP). This hormone plays a critical role in guiding the normal growth and development of cartilage and bone in a developing baby. In babies with this condition, the bones develop in an abnormal way during pregnancy. The cartilage that should slowly turn into bone does
How is Blomstrand lethal chondrodysplasia inherited?
Blomstrand lethal chondrodysplasia follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Blomstrand lethal chondrodysplasia typically begin?
Typical onset of Blomstrand lethal chondrodysplasia is neonatal. Age of onset can vary across affected individuals.