Overview
Lethal recessive chondrodysplasia is an extremely rare group of inherited skeletal disorders that affect how cartilage and bone develop in a growing baby. The term 'chondrodysplasia' means abnormal growth of cartilage, and 'lethal recessive' indicates that the condition is severe enough to cause death before or shortly after birth, and that it follows an autosomal recessive inheritance pattern. This means a child must inherit a faulty copy of the responsible gene from both parents to be affected. Babies with this condition typically show severely shortened limbs, an abnormally shaped chest that is often very narrow or small, and underdeveloped lungs. The small chest and poor lung development are the main reasons the condition is life-threatening, as the baby cannot breathe adequately. Other features may include a flattened face, soft skull bones, and overall very short stature. The condition is usually detected during pregnancy through ultrasound imaging, which may reveal very short limbs and a small chest. Because this condition is lethal in the newborn period, there are currently no curative treatments available. Medical care focuses on providing comfort and supportive measures. Genetic counseling is very important for affected families, as carrier parents have a 25% chance of having another affected child with each pregnancy. Prenatal diagnosis through genetic testing or detailed ultrasound can be offered in future pregnancies.
Also known as:
Key symptoms:
Severely shortened arms and legsVery small or narrow chestUnderdeveloped lungsDifficulty breathing or inability to breathe at birthVery short statureFlattened facial featuresSoft or poorly formed skull bonesAbnormal shape of the spineShort ribsSwollen or rounded abdomenExcess fluid around the baby (hydrops fetalis)Reduced fetal movement during pregnancy
Clinical phenotype terms (12)— 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 Lethal recessive chondrodysplasia.
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Specialists
View all specialists →No specialists are currently listed for Lethal recessive 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 Lethal recessive chondrodysplasia.
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Caregiver Resources
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Social Security Disability
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Questions for your doctor
Bring these to your next appointment
- Q1.What specific type of lethal chondrodysplasia does our baby have, and has a genetic cause been identified?,What are our options for comfort care and palliative support for our baby?,What is the chance that this could happen again in a future pregnancy?,Can we have genetic testing to find out if we are carriers of a specific gene mutation?,What prenatal testing options are available for future pregnancies?,Are there support groups or counseling services for families who have experienced this diagnosis?,Should other family members be tested to see if they are carriers?
Common questions about Lethal recessive chondrodysplasia
What is Lethal recessive chondrodysplasia?
Lethal recessive chondrodysplasia is an extremely rare group of inherited skeletal disorders that affect how cartilage and bone develop in a growing baby. The term 'chondrodysplasia' means abnormal growth of cartilage, and 'lethal recessive' indicates that the condition is severe enough to cause death before or shortly after birth, and that it follows an autosomal recessive inheritance pattern. This means a child must inherit a faulty copy of the responsible gene from both parents to be affected. Babies with this condition typically show severely shortened limbs, an abnormally shaped chest th
How is Lethal recessive chondrodysplasia inherited?
Lethal recessive chondrodysplasia follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Lethal recessive chondrodysplasia typically begin?
Typical onset of Lethal recessive chondrodysplasia is neonatal. Age of onset can vary across affected individuals.