Living with Neurodevelopmental disorder with dysmorphic facies and variable seizures
A rare genetic condition with developmental delay, intellectual disability, speech delay, and sometimes seizures, starting in early childhood.
Understanding Neurodevelopmental disorder with dysmorphic facies and variable seizures
NEDDFAS causes global developmental delay and intellectual disability that begin in early childhood. People may also have seizures, speech delay, differences in facial features, and differences in behavior. Mild bone and kidney differences may also be found.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Delayed development
- Mild intellectual disability
- Delayed speech and language
- Seizures triggered by fever
- Anxiety and trouble concentrating
- Trouble sleeping
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
Your doctor may refer you to a specialist who knows rare conditions.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- A doctor familiar with rare conditions, plus specialists as needed
- 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 rare disease patient organizations for support
- 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
NEDDFAS is caused by changes in the EMC10 gene. A child inherits a changed copy of the gene from each parent (autosomal recessive).
Also known as: neddfas
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Neurodevelopmental disorder with dysmorphic facies and variable seizures.
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