Overview
Microcephalic primordial dwarfism, Montreal type, is an extremely rare genetic condition characterized by very small body size that begins before birth (primordial dwarfism) combined with an unusually small head (microcephaly). This condition was first described in patients from the Montreal area of Canada. Individuals with this condition are significantly shorter and lighter than average from birth, and their head size is much smaller than expected for their age. The small head size is associated with intellectual disability, which can range from mild to severe. Other features may include distinctive facial characteristics, skeletal abnormalities, and delayed development of motor and cognitive skills. Because this condition is so rare, with very few cases reported in the medical literature, the full range of symptoms and the natural history of the disease are not completely understood. There is currently no cure or specific treatment for this condition. Management focuses on supportive care, addressing developmental delays through early intervention therapies such as physical therapy, occupational therapy, and speech therapy, and monitoring for any associated medical complications. Regular follow-up with a team of specialists is important to optimize quality of life and address individual health needs as they arise.
Also known as:
Key symptoms:
Very small body size present from before birthUnusually small head (microcephaly)Intellectual disabilityDelayed motor developmentDelayed speech and language developmentShort stature that persists throughout lifeLow birth weightDistinctive facial featuresSkeletal abnormalitiesGrowth failure despite adequate nutrition
Clinical phenotype terms (30)— 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, Montreal type.
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Specialists
View all specialists →No specialists are currently listed for Microcephalic primordial dwarfism, Montreal type.
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 primordial dwarfism, Montreal type.
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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 type of primordial dwarfism does my child have, and how was the diagnosis confirmed?,Should we pursue genetic testing such as whole exome sequencing to look for the exact genetic cause?,What developmental therapies should we start, and how often should they occur?,Are there any medical complications we should watch for as my child grows?,What is the expected range of intellectual ability, and what educational supports are available?,Are there any clinical studies or research programs we could participate in?,How often should we schedule follow-up visits, and with which specialists?
Common questions about Microcephalic primordial dwarfism, Montreal type
What is Microcephalic primordial dwarfism, Montreal type?
Microcephalic primordial dwarfism, Montreal type, is an extremely rare genetic condition characterized by very small body size that begins before birth (primordial dwarfism) combined with an unusually small head (microcephaly). This condition was first described in patients from the Montreal area of Canada. Individuals with this condition are significantly shorter and lighter than average from birth, and their head size is much smaller than expected for their age. The small head size is associated with intellectual disability, which can range from mild to severe. Other features may include dis
How is Microcephalic primordial dwarfism, Montreal type inherited?
Microcephalic primordial dwarfism, Montreal type follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Microcephalic primordial dwarfism, Montreal type typically begin?
Typical onset of Microcephalic primordial dwarfism, Montreal type is neonatal. Age of onset can vary across affected individuals.