Living with Stern-Lubinsky-Durrie syndrome
A rare genetic condition of skin, nails, eyes, and teeth with thick palms and soles and short stature.
Understanding Stern-Lubinsky-Durrie syndrome
It causes changes on the surface of the eye (cornea), and thick, scaly skin on the palms and soles. Nails may be abnormal, and fingers are short with a single crease across the palm. People are short and may have more tooth decay. Eye symptoms include light sensitivity and reduced night vision. GARD notes no further descriptions in the literature since 1984.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Severe short stature
- Thick skin on palms and soles
- Cloudy or rough surface of the eye (corneal dystrophy)
- Light sensitivity
- Short fingers and abnormal nails
- Tooth decay and thin enamel
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 eye disease specialists, genetic specialists and skin, hair, and nail specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
National Foundation for Ectodermal Dysplasias may keep lists of experts for this condition.
Care & treatment
- Care team
- Eye disease specialists (ophthalmologists); Genetic specialists (geneticists); Skin, hair, and nail specialists (dermatologists)
- Expert care
- Expert lists: National Foundation for Ectodermal Dysplasias
- 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 National Foundation for Ectodermal Dysplasias 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 genes (variants) cause this condition. It is autosomal dominant, meaning one changed copy of a gene can cause it. GARD doesn't list which gene.
Also known as: cdo syndrome; corneal changes, hyperkeratosis, short stature, brachydactyly, and premature birth; corneal dystrophy, epithelial, with skin and skeletal changes; corneo-dermato-osseous syndrome; corneodermatoosseous syndrome
Patient organizations
- National Foundation for Ectodermal DysplasiasStern-Lubinsky-Durrie syndrome · United States
- Children's Skin Disease FoundationSkin diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Stern-Lubinsky-Durrie syndrome.
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