Overview
Keppen-Lubinsky syndrome (also known as KLS) is an extremely rare genetic condition that affects multiple body systems. It was first described in 1997 and is caused by changes (mutations) in the KCNJ6 gene. The syndrome is characterized by a distinctive combination of features present from birth, including a very lean body with almost no body fat (called lipodystrophy), tight skin that appears aged or wrinkled, and distinctive facial features. Affected individuals typically have a narrow face, prominent eyes, a thin nose, and a small mouth with a high-arched palate. Intellectual disability and developmental delays are common features of this condition. Babies born with Keppen-Lubinsky syndrome often have significant feeding difficulties, poor growth, and low muscle tone (hypotonia). Many affected children also experience hearing loss and may have joint contractures, where the joints become stiff and difficult to move. The condition can also affect the nervous system, leading to problems with movement and coordination. There is currently no cure for Keppen-Lubinsky syndrome. Treatment focuses on managing individual symptoms and supporting the child's development. This may include nutritional support, physical therapy, occupational therapy, speech therapy, and hearing aids if needed. Because the condition is so rare, with only a handful of cases reported worldwide, knowledge about the full range of symptoms and long-term outcomes is still growing.
Key symptoms:
Very little body fat (lipodystrophy)Tight, wrinkled skin that looks agedDistinctive narrow face with prominent eyesIntellectual disabilityDevelopmental delaysFeeding difficulties in infancyPoor growth and failure to thriveLow muscle tone (floppiness)Hearing lossStiff joints or joint contracturesHigh-arched palateSmall mouthThin noseDelayed speech developmentMovement and coordination problems
Clinical phenotype terms (42)— hover any for plain English
Autosomal dominant
Passed on from just one parent; each child has about a 50% chance of inheriting it
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Keppen-Lubinsky syndrome.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for Keppen-Lubinsky syndrome at this time.
New trials open frequently. Follow this disease to get notified.
Specialists
View all specialists →No specialists are currently listed for Keppen-Lubinsky 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 Keppen-Lubinsky syndrome.
Community
No community posts yet. Be the first to share your experience with Keppen-Lubinsky syndrome.
Start the conversation →Latest news about Keppen-Lubinsky syndrome
No recent news articles for Keppen-Lubinsky syndrome.
Follow this condition to be notified when news becomes available.
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.What specific KCNJ6 mutation does my child have, and what does it mean for their health?,What therapies and interventions should we start right away?,How should we manage feeding difficulties, and will my child need tube feeding?,What developmental milestones should we watch for, and when should we be concerned?,Should my child have a hearing test, and how often should hearing be monitored?,Are there any clinical trials or research studies we could participate in?,What is the chance of this condition occurring again in future pregnancies?
Common questions about Keppen-Lubinsky syndrome
What is Keppen-Lubinsky syndrome?
Keppen-Lubinsky syndrome (also known as KLS) is an extremely rare genetic condition that affects multiple body systems. It was first described in 1997 and is caused by changes (mutations) in the KCNJ6 gene. The syndrome is characterized by a distinctive combination of features present from birth, including a very lean body with almost no body fat (called lipodystrophy), tight skin that appears aged or wrinkled, and distinctive facial features. Affected individuals typically have a narrow face, prominent eyes, a thin nose, and a small mouth with a high-arched palate. Intellectual disability and
How is Keppen-Lubinsky syndrome inherited?
Keppen-Lubinsky syndrome follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Keppen-Lubinsky syndrome typically begin?
Typical onset of Keppen-Lubinsky syndrome is neonatal. Age of onset can vary across affected individuals.