Overview
Microcephalic primordial dwarfism due to ZNF335 deficiency is an extremely rare genetic condition that affects brain development and overall body growth from very early in life. The disease is caused by harmful changes (mutations) in the ZNF335 gene, which plays an important role in how the brain develops before birth. Children born with this condition have a very small head size (microcephaly) and are significantly smaller than expected for their age (primordial dwarfism), meaning the growth restriction begins before birth and continues after. The brain is often severely underdeveloped, with a simplified structure that lacks the normal folds and layers seen in a healthy brain. This leads to profound intellectual disability, seizures, and significant developmental delays. Other features may include distinctive facial features and problems with other organ systems. Because the condition is so rare, there are currently no specific treatments or cures. Care is supportive and focuses on managing symptoms such as seizures, feeding difficulties, and developmental needs. A team of specialists is typically needed to provide the best possible care. The prognosis is unfortunately very poor, with many affected children having a significantly shortened lifespan due to the severity of brain malformation and associated complications.
Also known as:
Key symptoms:
Extremely small head size present at birthVery short stature and low birth weightSevere intellectual disabilitySeizuresSimplified brain structure with reduced foldsFeeding difficultiesFailure to thriveProfound developmental delaysAbnormal muscle toneDistinctive facial featuresVision problemsLimited or absent speechMovement difficulties
Clinical phenotype terms (9)— hover any for plain English
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Microcephalic primordial dwarfism due to ZNF335 deficiency.
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Specialists
View all specialists →No specialists are currently listed for Microcephalic primordial dwarfism due to ZNF335 deficiency.
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
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Community
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
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Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.What is the expected course of this condition for my child specifically?,What seizure medications are recommended, and what side effects should I watch for?,Does my child need a feeding tube, and how do I manage it at home?,What therapies (physical, occupational) would benefit my child?,Should we involve palliative care, and what does that look like?,What is the chance of having another child with this condition, and is prenatal testing available?,Are there any research studies or registries we should know about?
Common questions about Microcephalic primordial dwarfism due to ZNF335 deficiency
What is Microcephalic primordial dwarfism due to ZNF335 deficiency?
Microcephalic primordial dwarfism due to ZNF335 deficiency is an extremely rare genetic condition that affects brain development and overall body growth from very early in life. The disease is caused by harmful changes (mutations) in the ZNF335 gene, which plays an important role in how the brain develops before birth. Children born with this condition have a very small head size (microcephaly) and are significantly smaller than expected for their age (primordial dwarfism), meaning the growth restriction begins before birth and continues after. The brain is often severely underdeveloped, with
How is Microcephalic primordial dwarfism due to ZNF335 deficiency inherited?
Microcephalic primordial dwarfism due to ZNF335 deficiency follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Microcephalic primordial dwarfism due to ZNF335 deficiency typically begin?
Typical onset of Microcephalic primordial dwarfism due to ZNF335 deficiency is neonatal. Age of onset can vary across affected individuals.