Overview
Microcephalic cortical malformations with short stature due to RTTN deficiency is an extremely rare genetic condition that affects brain development and overall growth. The disease is caused by mutations in the RTTN gene, which provides instructions for making a protein called rotatin. This protein plays an important role in cell division and brain development before birth. Children born with this condition have an abnormally small head (microcephaly) because the brain does not develop properly. The brain's outer layer, called the cortex, shows structural abnormalities (cortical malformations) that can include simplified folding patterns or other irregularities. These brain changes typically lead to intellectual disability, developmental delays, and often seizures. Affected children also have notably short stature compared to their peers. Other features may include movement difficulties, speech delays, and sometimes vision problems. The severity can vary between individuals, but most children require significant support throughout their lives. There is currently no cure for this condition. Treatment focuses on managing symptoms, such as controlling seizures with medication, providing physical and occupational therapy, and supporting developmental progress. A team of specialists is usually needed to address the various aspects of this complex condition.
Key symptoms:
Abnormally small head size (microcephaly)Short stature or poor growthIntellectual disabilityDelayed development of motor skills like sitting and walkingSeizures or epilepsySpeech and language delaysAbnormal brain structure visible on MRIDifficulty with coordination and balanceMuscle stiffness or spasticityFeeding difficulties in infancyVision problemsSimplified brain folding patternsLow muscle tone in early life
Clinical phenotype terms (50)— 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 cortical malformations-short stature due to RTTN deficiency.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for Microcephalic cortical malformations-short stature due to RTTN deficiency at this time.
New trials open frequently. Follow this disease to get notified.
Specialists
View all specialists →No specialists are currently listed for Microcephalic cortical malformations-short stature due to RTTN 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
No travel grants are currently matched to Microcephalic cortical malformations-short stature due to RTTN deficiency.
Community
No community posts yet. Be the first to share your experience with Microcephalic cortical malformations-short stature due to RTTN deficiency.
Start the conversation →Latest news about Microcephalic cortical malformations-short stature due to RTTN deficiency
No recent news articles for Microcephalic cortical malformations-short stature due to RTTN deficiency.
Follow this condition to be notified when news becomes available.
Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
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 specific brain abnormalities does my child have, and how might they affect development?,What seizure medications are recommended, and what side effects should I watch for?,What therapies (physical, occupational, speech) should we start, and how often?,Are there any clinical trials or research studies for RTTN-related conditions that we could participate in?,What is the expected developmental trajectory for my child based on the severity of their condition?,Should we see a pediatric endocrinologist about my child's growth, and is growth hormone therapy an option?,What genetic counseling is available for our family regarding future pregnancies?
Common questions about Microcephalic cortical malformations-short stature due to RTTN deficiency
What is Microcephalic cortical malformations-short stature due to RTTN deficiency?
Microcephalic cortical malformations with short stature due to RTTN deficiency is an extremely rare genetic condition that affects brain development and overall growth. The disease is caused by mutations in the RTTN gene, which provides instructions for making a protein called rotatin. This protein plays an important role in cell division and brain development before birth. Children born with this condition have an abnormally small head (microcephaly) because the brain does not develop properly. The brain's outer layer, called the cortex, shows structural abnormalities (cortical malformations
How is Microcephalic cortical malformations-short stature due to RTTN deficiency inherited?
Microcephalic cortical malformations-short stature due to RTTN deficiency follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Microcephalic cortical malformations-short stature due to RTTN deficiency typically begin?
Typical onset of Microcephalic cortical malformations-short stature due to RTTN deficiency is neonatal. Age of onset can vary across affected individuals.