Overview
Autosomal recessive cutis laxa type 2, classic type (also known as ARCL2A or wrinkly skin syndrome/cutis laxa with developmental delay) is a rare inherited condition that affects the skin, skeleton, and nervous system. It is caused by changes in the ATP6V0A2 gene, which plays an important role in how cells process and transport proteins. The hallmark feature of this condition is loose, wrinkly, and sagging skin that lacks normal elasticity. This is especially noticeable at birth or in early infancy. The skin may appear too large for the body, giving an aged appearance. Beyond the skin, children with this condition often experience delayed development, including late achievement of motor milestones like sitting and walking, as well as intellectual disability that can range from mild to moderate. Many affected individuals also have a large fontanelle (soft spot) that is slow to close, distinctive facial features, and skeletal abnormalities such as joint hypermobility. Seizures can occur in some cases. There is currently no cure for this condition. Treatment focuses on managing individual symptoms, supporting development through therapies, and monitoring for complications. Importantly, the skin findings may improve somewhat with age in many patients, which is an encouraging aspect of this condition compared to other forms of cutis laxa.
Key symptoms:
Loose, wrinkly, sagging skinSkin that does not snap back when pulledAged facial appearance in infancyDelayed motor development (late sitting, walking)Intellectual disability (mild to moderate)Large soft spot on the head that is slow to closeLoose or overly flexible jointsShort statureSeizures or epilepsyDistinctive facial features (downturned mouth, broad nose)Low muscle tone (floppiness)Abnormal brain findings on MRISkeletal abnormalitiesFeeding 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 2, classic type.
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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 2, classic type.
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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, and what symptoms should I watch for as they grow?,What therapies should we start right away to support my child's development?,Does my child need seizure monitoring or medication?,How often should we schedule follow-up visits and with which specialists?,Will the skin looseness improve over time in my child's case?,Should other family members be tested to see if they are carriers?,Are there any clinical trials or research studies we should know about?
Common questions about Autosomal recessive cutis laxa type 2, classic type
What is Autosomal recessive cutis laxa type 2, classic type?
Autosomal recessive cutis laxa type 2, classic type (also known as ARCL2A or wrinkly skin syndrome/cutis laxa with developmental delay) is a rare inherited condition that affects the skin, skeleton, and nervous system. It is caused by changes in the ATP6V0A2 gene, which plays an important role in how cells process and transport proteins. The hallmark feature of this condition is loose, wrinkly, and sagging skin that lacks normal elasticity. This is especially noticeable at birth or in early infancy. The skin may appear too large for the body, giving an aged appearance. Beyond the skin, childre
How is Autosomal recessive cutis laxa type 2, classic type inherited?
Autosomal recessive cutis laxa type 2, classic type 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 2, classic type typically begin?
Typical onset of Autosomal recessive cutis laxa type 2, classic type is neonatal. Age of onset can vary across affected individuals.