Overview
Rhizomelic chondrodysplasia punctata type 2 (RCDP type 2) is a very rare inherited disorder that affects how the body builds certain fats called plasmalogens. Plasmalogens are important building blocks found in many tissues, especially the brain, lungs, and bones. RCDP type 2 is caused by changes (mutations) in the GNPAT gene, which provides instructions for an enzyme needed in the first step of plasmalogen production. This enzyme works inside tiny cell structures called peroxisomes. Children born with RCDP type 2 typically have shortened bones in the upper arms and thighs (called rhizomelia), a specific pattern of spots seen on X-rays in the cartilage near joints (stippled epiphyses or chondrodysplasia punctata), cataracts present at birth or developing early in life, and significant growth problems. Many affected children also have intellectual disability and developmental delays. The severity can vary, but most children are significantly affected. There is currently no cure for RCDP type 2. Treatment focuses on managing symptoms and improving quality of life. This may include surgery for cataracts, physical therapy to support movement, and orthopedic care for bone and joint problems. Research into plasmalogen replacement therapy is ongoing and represents a hopeful area of investigation. A team of specialists working together provides the best care for affected children and their families.
Key symptoms:
Shortened upper arm and thigh bones (rhizomelia)Spots on cartilage seen on X-rays (stippled epiphyses)Cataracts present at birth or in early infancySevere growth failure and short statureIntellectual disabilityDevelopmental delaysSeizuresJoint stiffness and contracturesFlattened facial featuresBreathing difficultiesFeeding difficultiesSkin changes such as thickened or scaly skinSpasticity or increased muscle tone
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 Rhizomelic chondrodysplasia punctata type 2.
View clinical trials →Clinical Trials
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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 Rhizomelic chondrodysplasia punctata type 2.
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.How severe is my child's condition, and what can we expect in terms of development and lifespan?,When should cataract surgery be performed, and what vision outcomes can we expect?,Are there any clinical trials or experimental treatments, such as plasmalogen replacement therapy, that my child might be eligible for?,What therapies (physical, occupational, speech) should we start, and how often?,What emergency signs should I watch for at home, and what should I do if they occur?,How can we best support my child's nutrition and feeding?,Are there genetic counseling services available to help us understand the risk for future pregnancies?
Common questions about Rhizomelic chondrodysplasia punctata type 2
What is Rhizomelic chondrodysplasia punctata type 2?
Rhizomelic chondrodysplasia punctata type 2 (RCDP type 2) is a very rare inherited disorder that affects how the body builds certain fats called plasmalogens. Plasmalogens are important building blocks found in many tissues, especially the brain, lungs, and bones. RCDP type 2 is caused by changes (mutations) in the GNPAT gene, which provides instructions for an enzyme needed in the first step of plasmalogen production. This enzyme works inside tiny cell structures called peroxisomes. Children born with RCDP type 2 typically have shortened bones in the upper arms and thighs (called rhizomelia)
How is Rhizomelic chondrodysplasia punctata type 2 inherited?
Rhizomelic chondrodysplasia punctata type 2 follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Rhizomelic chondrodysplasia punctata type 2 typically begin?
Typical onset of Rhizomelic chondrodysplasia punctata type 2 is neonatal. Age of onset can vary across affected individuals.
Which specialists treat Rhizomelic chondrodysplasia punctata type 2?
7 specialists and care centers treating Rhizomelic chondrodysplasia punctata type 2 are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.