Overview
Rhizomelic chondrodysplasia punctata type 5 (RCDP type 5) is an extremely rare genetic disorder that affects bone and cartilage development. It belongs to a group of conditions called rhizomelic chondrodysplasia punctata (RCDP), which share certain features including shortening of the bones closest to the body (such as the upper arms and thighs), abnormal calcium deposits in cartilage (called stippled epiphyses or chondrodysplasia punctata), cataracts, and growth problems. The term 'rhizomelic' refers to the shortening of these proximal (near the trunk) limb bones. Type 5 is caused by mutations in the PEX5 gene, which plays a role in how certain cell structures called peroxisomes function. Peroxisomes are small compartments inside cells that carry out important chemical reactions, including the production of plasmalogens — special fats that are critical for normal brain and bone development. When peroxisome function is disrupted, plasmalogen levels drop, leading to the characteristic skeletal abnormalities, eye problems, and developmental delays seen in this condition. Because RCDP type 5 is so rare, treatment is mainly supportive and focused on managing individual symptoms. There is currently no cure, and care typically involves a team of specialists working together to address orthopedic, eye, and developmental needs.
Key symptoms:
Shortening of the upper arms and thighsAbnormal calcium spots in cartilage visible on X-rayCataracts present at birth or early infancyShort stature and poor growthIntellectual disabilityDevelopmental delaysJoint stiffness or contracturesFlat facial featuresSeizuresDifficulty breathingSkin changes such as dry or scaly skinFeeding difficulties in infancyLimited range of motion in joints
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 5.
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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 5.
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 over time?,What therapies should we start right away to support development?,How often should my child have eye exams and other specialist visits?,Are there any clinical trials or experimental treatments we should know about?,What emergency signs should I watch for at home?,What support services are available for our family?,Is genetic counseling recommended for our family regarding future pregnancies?
Common questions about Rhizomelic chondrodysplasia punctata type 5
What is Rhizomelic chondrodysplasia punctata type 5?
Rhizomelic chondrodysplasia punctata type 5 (RCDP type 5) is an extremely rare genetic disorder that affects bone and cartilage development. It belongs to a group of conditions called rhizomelic chondrodysplasia punctata (RCDP), which share certain features including shortening of the bones closest to the body (such as the upper arms and thighs), abnormal calcium deposits in cartilage (called stippled epiphyses or chondrodysplasia punctata), cataracts, and growth problems. The term 'rhizomelic' refers to the shortening of these proximal (near the trunk) limb bones. Type 5 is caused by mutation
How is Rhizomelic chondrodysplasia punctata type 5 inherited?
Rhizomelic chondrodysplasia punctata type 5 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 5 typically begin?
Typical onset of Rhizomelic chondrodysplasia punctata type 5 is neonatal. Age of onset can vary across affected individuals.
Which specialists treat Rhizomelic chondrodysplasia punctata type 5?
2 specialists and care centers treating Rhizomelic chondrodysplasia punctata type 5 are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.