Living with Microcephalic primordial dwarfism due to ZNF335 deficiency
A rare inherited brain condition with a very small brain and head before birth.
Understanding Microcephalic primordial dwarfism due to ZNF335 deficiency
The brain has a simplified fold pattern, and the structure joining the two halves may be missing. The brainstem and cerebellum can be underdeveloped, and white matter is affected. Congenital cataract, a blocked nasal passage, stiff joints, and stiff limbs can occur. It starts in pregnancy and the newborn period.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Very small head (microcephaly)
- Simplified brain folds
- Small brain surface (cerebral cortex)
- Brain shrinkage (atrophy)
- Enlarged brain fluid spaces (ventriculomegaly)
- Cerebellum differences
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 ZNF335 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 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
Changes in the ZNF335 gene cause this condition. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: microcephalic primordial dwarfism, walsh type; primary autosomal recessive microcephaly 10
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 Microcephalic primordial dwarfism due to ZNF335 deficiency.
Explore research for Microcephalic primordial dwarfism due to ZNF335 deficiency
Explore actively recruiting Microcephalic primordial dwarfism due to ZNF335 deficiency studies with HealthSpark.
Find actively recruiting studies for Microcephalic primordial dwarfism due to ZNF335 deficiency 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 Microcephalic primordial dwarfism due to ZNF335 deficiency 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 Microcephalic primordial dwarfism due to ZNF335 deficiency
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 Microcephalic primordial dwarfism due to ZNF335 deficiency 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.