Overview
Autosomal recessive cutis laxa type 2A (ARCL2A), also known as cutis laxa type 2A or wrinkly skin syndrome, is a rare inherited connective tissue disorder caused by changes in the ATP6V0A2 gene. This gene plays an important role in how cells process and package proteins, specifically through a structure called the Golgi apparatus. When this gene does not work properly, the elastic fibers in the skin and other tissues do not form correctly. The most noticeable feature of ARCL2A is loose, wrinkled, and sagging skin that hangs in folds, especially on the face, hands, and feet. This gives affected individuals an appearance of premature aging. Beyond the skin, this condition often affects brain development, leading to intellectual disability that can range from mild to moderate. Many children experience delayed development of motor skills such as sitting and walking. Other common features include a large fontanelle (soft spot) that is slow to close, seizures, and distinctive facial features such as a broad nose and downturned mouth. There is currently no cure for ARCL2A. Treatment focuses on managing individual symptoms and may involve physical therapy, occupational therapy, speech therapy, and anti-seizure medications when needed. Some skin looseness may improve somewhat with age, though it does not fully resolve. A team of specialists is typically needed to provide comprehensive care throughout life.
Also known as:
Key symptoms:
Loose, wrinkled, sagging skinPremature aging appearanceIntellectual disability (mild to moderate)Delayed motor development (sitting, walking)Seizures or epilepsyLarge soft spot on the head that closes slowlyDistinctive facial features (broad nose, downturned mouth)Short statureJoint hypermobility (overly flexible joints)Abnormal brain structure on imagingDelayed speech developmentLow muscle tone (floppy baby)Skeletal abnormalities such as hip dislocationFeeding difficulties in infancy
Clinical phenotype terms (50)— hover any for plain English
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 2A.
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Specialists
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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 Autosomal recessive cutis laxa type 2A.
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Caregiver Resources
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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 current findings, and what can we expect over time?,What therapies should we start right away to support development?,Does my child need anti-seizure medication, and what are the side effects?,How often should brain imaging and developmental assessments be repeated?,Are there clinical trials or research studies we could participate in?,What is the chance of having another child with this condition, and should we consider genetic counseling?,What educational and social support services are available for my child?
Common questions about Autosomal recessive cutis laxa type 2A
What is Autosomal recessive cutis laxa type 2A?
Autosomal recessive cutis laxa type 2A (ARCL2A), also known as cutis laxa type 2A or wrinkly skin syndrome, is a rare inherited connective tissue disorder caused by changes in the ATP6V0A2 gene. This gene plays an important role in how cells process and package proteins, specifically through a structure called the Golgi apparatus. When this gene does not work properly, the elastic fibers in the skin and other tissues do not form correctly. The most noticeable feature of ARCL2A is loose, wrinkled, and sagging skin that hangs in folds, especially on the face, hands, and feet. This gives affecte
How is Autosomal recessive cutis laxa type 2A inherited?
Autosomal recessive cutis laxa type 2A 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 2A typically begin?
Typical onset of Autosomal recessive cutis laxa type 2A is neonatal. Age of onset can vary across affected individuals.