Overview
Rhizomelic chondrodysplasia punctata type 1 (RCDP1) is a rare inherited condition that affects how the body builds bones, processes certain fats, and develops the brain. It belongs to a group of disorders called peroxisomal biogenesis disorders, meaning that tiny structures inside cells called peroxisomes do not work properly. Peroxisomes are needed to break down certain fats and to make a special type of fat called plasmalogens, which are important for normal brain and bone development. The most noticeable features of RCDP1 include shortening of the upper arms and thighs (called rhizomelia), a specific pattern of spots seen on X-rays in the cartilage near joints (called stippled epiphyses or chondrodysplasia punctata), cataracts present at or shortly after birth, severe growth failure, and intellectual disability. Many children also develop joint contractures, meaning their joints become stiff and hard to move. Skin changes and recurrent respiratory infections are also common. There is currently no cure for RCDP1. Treatment focuses on managing symptoms and improving quality of life. This may include surgery for cataracts, physical therapy to maintain joint movement, nutritional support, and treatment of infections. Research is ongoing to find therapies that could replace the missing plasmalogens or improve peroxisome function, but these are still in early stages. Early diagnosis and a coordinated care team are important to give children the best possible support.
Key symptoms:
Shortened upper arms and upper legsCataracts present at birth or in early infancySevere growth failure and short statureIntellectual disabilityStiff joints that are hard to move (joint contractures)Spotty calcifications in cartilage seen on X-raysFlat facial featuresSmall head size (microcephaly)SeizuresRecurrent respiratory infectionsDifficulty feedingDry or scaly skin (ichthyosis)Hearing lossSpasticity 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 1.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for Rhizomelic chondrodysplasia punctata type 1 at this time.
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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 1.
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 form of RCDP1, and what does that mean for their expected development?,When should cataract surgery be done, and what vision outcomes can we expect?,What therapies (physical, occupational, speech) should we start, and how often?,Are there any clinical trials or experimental treatments available for RCDP1?,What signs of respiratory infection should prompt us to go to the emergency room?,Should we consider a feeding tube, and when is the right time?,What genetic counseling is available for our family regarding future pregnancies?
Common questions about Rhizomelic chondrodysplasia punctata type 1
What is Rhizomelic chondrodysplasia punctata type 1?
Rhizomelic chondrodysplasia punctata type 1 (RCDP1) is a rare inherited condition that affects how the body builds bones, processes certain fats, and develops the brain. It belongs to a group of disorders called peroxisomal biogenesis disorders, meaning that tiny structures inside cells called peroxisomes do not work properly. Peroxisomes are needed to break down certain fats and to make a special type of fat called plasmalogens, which are important for normal brain and bone development. The most noticeable features of RCDP1 include shortening of the upper arms and thighs (called rhizomelia),
How is Rhizomelic chondrodysplasia punctata type 1 inherited?
Rhizomelic chondrodysplasia punctata type 1 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 1 typically begin?
Typical onset of Rhizomelic chondrodysplasia punctata type 1 is neonatal. Age of onset can vary across affected individuals.
Which specialists treat Rhizomelic chondrodysplasia punctata type 1?
7 specialists and care centers treating Rhizomelic chondrodysplasia punctata type 1 are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.