Overview
PYCR1-related De Barsy syndrome is a very rare genetic condition that affects multiple body systems. It is sometimes called autosomal recessive cutis laxa type 2B (ARCL2B) or De Barsy syndrome. The disease is caused by changes (mutations) in the PYCR1 gene, which plays an important role in making proline, an amino acid the body needs to build connective tissue and maintain healthy cells. The most noticeable features of this condition include loose, wrinkled skin (called cutis laxa) that makes affected individuals appear older than their actual age, even from birth. The skin loses its elasticity because the underlying connective tissue does not form properly. In addition to skin problems, people with this condition often have intellectual disability, growth delays, and distinctive facial features. Eye problems, particularly clouding of the cornea and other vision issues, are also common. Joint hypermobility (overly flexible joints), weak muscle tone, and skeletal abnormalities such as hip dislocations or osteoporosis may occur. There is currently no cure for PYCR1-related De Barsy syndrome. Treatment focuses on managing individual symptoms. This may include physical therapy for muscle weakness and joint problems, special education support for learning difficulties, eye care for vision problems, and monitoring bone health. A team of specialists working together provides the best care for affected individuals. Early intervention with therapies can help maximize developmental potential and quality of life.
Key symptoms:
Loose, wrinkled skin that looks agedIntellectual disability or learning difficultiesGrowth delays and short statureWeak muscle tone (floppiness)Cloudy corneas or other eye problemsOverly flexible jointsDistinctive facial featuresDelayed motor milestones like sitting and walkingThin or translucent skinHip dislocation or other skeletal problemsOsteoporosis or fragile bonesSpeech delaysMovement problems or involuntary movementsSmall head size (microcephaly)
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 PYCR1-related De Barsy syndrome.
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Specialists
View all specialists →No specialists are currently listed for PYCR1-related De Barsy syndrome.
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 PYCR1-related De Barsy syndrome.
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 compared to other known cases?,What therapies should we start right away to support development?,How often should my child have eye exams and bone density scans?,Are there any dietary supplements, like proline, that might help?,What signs of complications should I watch for at home?,Are there any research studies or clinical trials we could participate in?,Should other family members be tested to see if they carry the gene change?
Common questions about PYCR1-related De Barsy syndrome
What is PYCR1-related De Barsy syndrome?
PYCR1-related De Barsy syndrome is a very rare genetic condition that affects multiple body systems. It is sometimes called autosomal recessive cutis laxa type 2B (ARCL2B) or De Barsy syndrome. The disease is caused by changes (mutations) in the PYCR1 gene, which plays an important role in making proline, an amino acid the body needs to build connective tissue and maintain healthy cells. The most noticeable features of this condition include loose, wrinkled skin (called cutis laxa) that makes affected individuals appear older than their actual age, even from birth. The skin loses its elastici
How is PYCR1-related De Barsy syndrome inherited?
PYCR1-related De Barsy syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does PYCR1-related De Barsy syndrome typically begin?
Typical onset of PYCR1-related De Barsy syndrome is neonatal. Age of onset can vary across affected individuals.