Overview
Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome is an extremely rare genetic condition that affects multiple parts of the body. The name describes its main features: a larger-than-average head size (macrocephaly), intellectual disability, problems with brain development (neurodevelopmental disorder), and a chest that is smaller than expected (small thorax). This syndrome is caused by changes in the RNU4-2 gene, which plays a role in how the body processes genetic instructions needed for normal growth and development. Children with this condition typically show signs early in life, including developmental delays, difficulty learning, and differences in physical growth. The small chest can sometimes affect breathing, and the large head size may be associated with changes in brain structure visible on imaging. Other features may include low muscle tone, distinctive facial features, and delays in reaching milestones like sitting, walking, and talking. Because this syndrome is so rare, there is no specific cure or targeted treatment available. Management focuses on supportive care tailored to each person's needs, including therapies for developmental delays, monitoring of breathing and growth, and regular follow-up with a team of specialists. Early intervention with physical therapy, occupational therapy, and speech therapy can help children reach their best potential. Research into this condition is still in early stages, and families are encouraged to connect with genetics teams for the most up-to-date information.
Also known as:
Key symptoms:
Larger than average head sizeIntellectual disabilityDevelopmental delaysSmall or narrow chestLow muscle toneDelayed speech and languageDelayed motor milestones like walkingDistinctive facial featuresBreathing difficultiesSeizures in some casesFeeding difficulties in infancyShort statureBehavioral differencesBrain structure abnormalities on imaging
Clinical phenotype terms (45)— hover any for plain English
Autosomal dominant
Passed on from just one parent; each child has about a 50% chance of inheriting it
Neonatal
Begins at or shortly after birth (first 4 weeks)
FDA & Trial Timeline
10 eventsThe University of Texas Health Science Center, Houston — NA
University Hospital, Strasbourg, France — NA
Shanghai 6th People's Hospital
The Miriam Hospital
University Hospital, Toulouse — NA
University of California, San Diego — NA
Scripps Health — PHASE1, PHASE2
Universiti Putra Malaysia — PHASE4
IRCCS Centro San Giovanni di Dio Fatebenefratelli — NA
Duke University — PHASE2
Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.
Treatments
No FDA-approved treatments are currently listed for Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome at this time.
New trials open frequently. Follow this disease to get notified.
Rare Disease Specialist
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 Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome.
Community
No community posts yet. Be the first to share your experience with Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome.
Start the conversation →Latest news about Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome
Disease timeline:
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A new clinical trial is recruiting patients for Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome
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A new clinical trial is recruiting patients for Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome
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A new clinical trial is recruiting patients for Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome
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A new clinical trial is recruiting patients for Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome
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A new clinical trial is recruiting patients for Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome
New recruiting trial: Long COVID Brain Fog: Cognitive Rehabilitation Trial
A new clinical trial is recruiting patients for Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome
New recruiting trial: The Alberta Neonatal Abstinence Syndrome Mother-Baby Care ImprovEmeNT Program
A new clinical trial is recruiting patients for Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome
New recruiting trial: Effect of High-Intensity Exercise to Attenuate Cognitive Function Limitations and Train Exercise Habits in Older People Living With HIV
A new clinical trial is recruiting patients for Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome
New recruiting trial: An Intervention Mapping Approach to Closing the Gap in Maternal OUD and Infant NAS Care (SUPPORT)
A new clinical trial is recruiting patients for Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome
New recruiting trial: Improving Attention in Individuals With Long COVID-19
A new clinical trial is recruiting patients for Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome
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 specific genetic change was found, and what does it mean for my child?,How should we monitor my child's breathing given the small chest?,What therapies should we start right away, and how often?,Are there any signs or symptoms I should watch for that need emergency attention?,How will this condition affect my child's learning, and what school supports are available?,Is there a chance future children could also be affected, and should we pursue genetic counseling?,Are there any research studies or registries we can join to help advance understanding of this condition?
Common questions about Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome
What is Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome?
Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome is an extremely rare genetic condition that affects multiple parts of the body. The name describes its main features: a larger-than-average head size (macrocephaly), intellectual disability, problems with brain development (neurodevelopmental disorder), and a chest that is smaller than expected (small thorax). This syndrome is caused by changes in the RNU4-2 gene, which plays a role in how the body processes genetic instructions needed for normal growth and development. Children with this condition typicall
How is Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome inherited?
Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome typically begin?
Typical onset of Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome is neonatal. Age of onset can vary across affected individuals.
Which specialists treat Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome?
6 specialists and care centers treating Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.