Living with Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies
A rare genetic condition with developmental delay, early seizures, facial differences, and differences in the fingers and toes.
Understanding Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies
It includes varying developmental delay and intellectual disability, early-onset seizures, and facial differences. Other features can include a small head, low muscle tone, slow growth, heart defects, and finger and toe differences. Brain imaging may show a thin corpus callosum. It begins in infancy.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Small head (microcephaly)
- No speech
- Thin or missing corpus callosum on brain scans
- Broad thumbs
- Club feet
- Wide opening between the eyelids
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 and seizure and epilepsy specialists.
- 3Consider genetic testing
Changes in OTUD6B are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
Epilepsy Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists); Seizure and epilepsy specialists (epileptologist)
- Expert care
- Expert lists: Epilepsy Foundation
- 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 Epilepsy 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
Changes in the OTUD6B gene cause this condition. It is inherited in an autosomal recessive pattern, meaning a child inherits a changed copy of the gene from each parent.
Also known as: early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome; iddfsda
Patient organizations
- Epilepsy FoundationEpilepsy · United States
Broader rare-disease groups
- 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 Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies.
Explore research for Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies
Explore actively recruiting Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies studies with HealthSpark.
Find actively recruiting studies for Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
Powered by HealthSpark, our AI chat helper
I can help you find recruiting Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies studies. Enter a ZIP code, address or city below and I'll look within 50 miles.
Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
Get Signals for Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies
Stay in the loop with community stories and updates from medical researchers.
Create a living journal that talks back
HealthStory evolves private journaling with a living AI journal that talks back and asks thoughtful questions, helping you capture your Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies experiences more deeply and prepare for better conversations with your doctors and care team.
Your journal is private. Sharing your story publicly is a separate choice, made with Share your story above.