Overview
Autosomal recessive cutis laxa type 2B (ARCL2B) is a very rare inherited condition that affects the connective tissue in the body. It is caused by changes (mutations) in the PYCR1 gene, which plays a role in making proline, an important building block for collagen and other proteins that give skin and tissues their strength and elasticity. People with this condition are typically born with or develop loose, sagging, wrinkled skin that lacks its normal stretchiness and does not snap back when pulled. This gives an aged appearance, even in young children. Beyond the skin, ARCL2B can affect multiple body systems. Many individuals experience developmental delay, intellectual disability, and problems with muscle tone (often low muscle tone or hypotonia). Joint hypermobility, meaning joints that are unusually flexible, is also common. Some patients may have skeletal abnormalities, growth delay, and distinctive facial features such as a triangular face and prominent ears. Seizures and movement disorders have been reported in some cases. There is currently no cure for ARCL2B. Treatment focuses on managing symptoms and supporting development. This may include physical therapy, occupational therapy, speech therapy, and monitoring by multiple specialists. Skin surgery is sometimes considered for cosmetic reasons but results can be limited because the underlying connective tissue problem remains. Early intervention programs for developmental delays can make a meaningful difference in quality of life.
Key symptoms:
Loose, sagging, wrinkled skinAged appearance in childhoodLow muscle tone (floppiness)Developmental delayIntellectual disabilityJoint hypermobility (overly flexible joints)Short stature or growth delayTriangular-shaped faceProminent earsSeizuresMovement problemsBone or skeletal abnormalitiesFeeding difficulties in infancyDelayed motor milestones
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 Autosomal recessive cutis laxa type 2B.
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Specialists
View all specialists →No specialists are currently listed for Autosomal recessive cutis laxa type 2B.
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 Autosomal recessive cutis laxa type 2B.
Community
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
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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 based on the genetic findings?,What developmental therapies should we start right away?,Should we be concerned about seizures, and what signs should we watch for?,How often should we schedule follow-up visits with each specialist?,Are there any clinical trials or research studies we could participate in?,What is the expected outlook for my child's development and independence?,Are there other family members who should be tested for this gene change?
Common questions about Autosomal recessive cutis laxa type 2B
What is Autosomal recessive cutis laxa type 2B?
Autosomal recessive cutis laxa type 2B (ARCL2B) is a very rare inherited condition that affects the connective tissue in the body. It is caused by changes (mutations) in the PYCR1 gene, which plays a role in making proline, an important building block for collagen and other proteins that give skin and tissues their strength and elasticity. People with this condition are typically born with or develop loose, sagging, wrinkled skin that lacks its normal stretchiness and does not snap back when pulled. This gives an aged appearance, even in young children. Beyond the skin, ARCL2B can affect mult
How is Autosomal recessive cutis laxa type 2B inherited?
Autosomal recessive cutis laxa type 2B follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Autosomal recessive cutis laxa type 2B typically begin?
Typical onset of Autosomal recessive cutis laxa type 2B is neonatal. Age of onset can vary across affected individuals.