Living with Skraban-Deardorff syndrome
A rare genetic condition present from birth with developmental delay, learning challenges, seizures and walking problems.
Understanding Skraban-Deardorff syndrome
Symptoms can include seizures and walking problems. People may have distinctive facial features, such as a flat nose, a wide mouth and widely spaced teeth. Some have eye, heart or stomach problems, or features of autism. Brain imaging can show a thinner corpus callosum and other differences. It starts in infancy.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Intellectual disability
- Delayed speech and language
- Delayed sitting and walking
- Seizures
- Feeding difficulties in infancy
- Distinctive facial features
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 and genetic specialists.
- 3Consider genetic testing
Changes in WDR26 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)
- 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 Skraban-Deardorff Syndrome Foundation
- 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
GARD lists changes in the WDR26 gene. It is inherited in an autosomal dominant pattern, meaning one changed copy of the gene is enough.
Also known as: intellectual disability with seizures, abnormal gait, and distinctive facial features; intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome; intellectual disability, seizures, abnormal gait, facial dysmorphism syndrome; skraban deardorff syndrome; wdr26-related disorder
Patient organizations
- Skraban-Deardorff Syndrome FoundationSkraban-Deardorff syndrome · United States
You are more than your diagnosis
Perspectives from people navigating life with Skraban-Deardorff syndrome.
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