Overview
Rhizomelic chondrodysplasia punctata type 3 (RCDP type 3) is an extremely rare genetic disorder that affects how the body builds bones and processes certain fats called plasmalogens. It belongs to a group of conditions known as peroxisomal disorders, meaning there is a problem with tiny structures inside cells called peroxisomes that help break down and build important molecules. The word 'rhizomelic' refers to shortening of the bones closest to the body (upper arms and thighs), and 'chondrodysplasia punctata' describes a distinctive spotty pattern seen on X-rays of the cartilage and bones, especially around the joints. Children with RCDP type 3 typically show signs at birth or very early in life. Common features include shortened upper arms and thighs, a flat face, cataracts (cloudy lenses in the eyes), stiff joints (contractures), growth failure, and intellectual disability. The severity can vary, but many affected children face significant developmental challenges. Skin changes such as scaling (ichthyosis) may also occur. RCDP type 3 is caused by mutations in the AGPS gene, which is needed for making plasmalogens — fats that are essential for normal brain and bone development. There is currently no cure for this condition. Treatment focuses on managing symptoms, such as surgery for cataracts, physical therapy for joint stiffness, and supportive care to optimize development and quality of life. Research into plasmalogen replacement and other therapies is ongoing but not yet available as standard treatment.
Key symptoms:
Shortened upper arms and thighs (rhizomelia)Cataracts present at birth or early infancySpotty calcifications in cartilage seen on X-rayIntellectual disabilitySevere growth failure and short statureJoint stiffness and contracturesFlat facial featuresSeizuresFeeding difficultiesScaly or dry skin (ichthyosis)Delayed motor developmentDelayed speech developmentBreathing difficultiesRecurrent infections
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 3.
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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 3.
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?,When should cataract surgery be performed, and what outcomes can we expect?,What therapies should we start right away to help my child's development?,Are there any clinical trials or experimental treatments available for RCDP type 3?,What emergency signs should I watch for at home?,How can we best support my child's nutrition and growth?,Should other family members be tested to see if they are carriers?
Common questions about Rhizomelic chondrodysplasia punctata type 3
What is Rhizomelic chondrodysplasia punctata type 3?
Rhizomelic chondrodysplasia punctata type 3 (RCDP type 3) is an extremely rare genetic disorder that affects how the body builds bones and processes certain fats called plasmalogens. It belongs to a group of conditions known as peroxisomal disorders, meaning there is a problem with tiny structures inside cells called peroxisomes that help break down and build important molecules. The word 'rhizomelic' refers to shortening of the bones closest to the body (upper arms and thighs), and 'chondrodysplasia punctata' describes a distinctive spotty pattern seen on X-rays of the cartilage and bones, es
How is Rhizomelic chondrodysplasia punctata type 3 inherited?
Rhizomelic chondrodysplasia punctata type 3 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 3 typically begin?
Typical onset of Rhizomelic chondrodysplasia punctata type 3 is neonatal. Age of onset can vary across affected individuals.
Which specialists treat Rhizomelic chondrodysplasia punctata type 3?
7 specialists and care centers treating Rhizomelic chondrodysplasia punctata type 3 are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.