Overview
Lethal chondrodysplasia, Moerman type, is an extremely rare and severe skeletal disorder that affects the development of bones and cartilage before birth. This condition is classified as a lethal form of chondrodysplasia, meaning it causes such severe problems with bone and cartilage growth that affected babies typically do not survive. The term 'OBSOLETE' in the disease name indicates that this condition may have been reclassified or merged with another diagnosis as medical understanding has advanced. Babies with this condition show severe shortening of the limbs, an abnormally shaped chest that is often very narrow, and significant underdevelopment of the lungs. The rib cage is typically too small to allow the lungs to grow properly, which is the main reason this condition is fatal. Other features may include a large head relative to the body, flattened facial features, and generalized swelling (hydrops). The condition is usually detected during pregnancy through ultrasound imaging that reveals severely shortened limbs and other skeletal abnormalities. Because this condition is lethal, there are no curative treatments available. Management focuses on supportive care and compassionate counseling for families. Genetic counseling is important for parents to understand the risk of recurrence in future pregnancies.
Also known as:
Key symptoms:
Severely shortened arms and legsVery narrow or small chestUnderdeveloped lungsGeneralized body swelling (hydrops)Abnormal bone and cartilage developmentLarge head relative to body sizeFlattened facial featuresAbnormal rib developmentDifficulty breathing at birthStillbirth or death shortly after birth
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 OBSOLETE: Lethal chondrodysplasia, Moerman type.
View clinical trials →Clinical Trials
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Specialists
View all specialists →No specialists are currently listed for OBSOLETE: Lethal chondrodysplasia, Moerman 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 OBSOLETE: Lethal chondrodysplasia, Moerman 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 type of skeletal disorder does my baby have, and how certain is the diagnosis?,Is genetic testing available to identify the exact cause?,What is the chance this could happen again in a future pregnancy?,What support services are available for our family during this time?,Can we be referred to a genetic counselor to discuss family planning?,Are there any research studies looking into this condition that we could participate in?,What options do we have for prenatal testing in future pregnancies?
Common questions about OBSOLETE: Lethal chondrodysplasia, Moerman type
What is OBSOLETE: Lethal chondrodysplasia, Moerman type?
Lethal chondrodysplasia, Moerman type, is an extremely rare and severe skeletal disorder that affects the development of bones and cartilage before birth. This condition is classified as a lethal form of chondrodysplasia, meaning it causes such severe problems with bone and cartilage growth that affected babies typically do not survive. The term 'OBSOLETE' in the disease name indicates that this condition may have been reclassified or merged with another diagnosis as medical understanding has advanced. Babies with this condition show severe shortening of the limbs, an abnormally shaped chest
How is OBSOLETE: Lethal chondrodysplasia, Moerman type inherited?
OBSOLETE: Lethal chondrodysplasia, Moerman type follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does OBSOLETE: Lethal chondrodysplasia, Moerman type typically begin?
Typical onset of OBSOLETE: Lethal chondrodysplasia, Moerman type is neonatal. Age of onset can vary across affected individuals.