Living with Keppen-Lubinsky syndrome
A rare genetic condition with severe developmental delay, loss of body fat, and an aged look in the face.
Understanding Keppen-Lubinsky syndrome
People have severe developmental delay and intellectual disability, stiff muscles, a small head, tight skin, and an aged appearance. Facial features include large prominent eyes, a narrow nasal bridge, an open mouth, and a high-arched palate. Lab tests of blood and urine are normal. It is seen in newborns.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Loss of body and facial fat (lipodystrophy)
- Aged-looking face
- Severe developmental delay
- Small head (microcephaly)
- Slow growth and weight gain
- Stiff joints that cannot straighten
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include brain and nervous system specialists, genetic specialists, hormone specialists and skin, hair, and nail specialists.
- 3Consider genetic testing
Changes in KCNJ6 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists); Hormone specialists (endocrinologists); Skin, hair, and nail specialists (dermatologists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Lipodystrophy United and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in the KCNJ6 gene cause this condition. It is autosomal dominant, meaning one changed copy of the gene is enough to cause it.
Also known as: generalised lipodystrophy-progeroid features-severe intellectual disability syndrome; generalized lipodystrophy-progeroid features-severe intellectual disability syndrome; generalized lipodystrophy, progeroid features, severe intellectual disability syndrome; keppen lubinsky syndrome; kplbs
Patient organizations
- Lipodystrophy UnitedKeppen-Lubinsky syndrome · United States
- Children's Skin Disease FoundationSkin diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Keppen-Lubinsky syndrome.
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