Overview
Microcephalic osteodysplastic primordial dwarfism type II (MOPD II), also known as Majewski osteodysplastic primordial dwarfism type II, is an extremely rare genetic condition that causes severe growth restriction beginning before birth. People with MOPD II are among the smallest individuals in the world, often reaching an adult height of only about 3 feet (approximately 100 cm) or less. The condition affects many parts of the body. The hallmark features include a very small head size (microcephaly), distinctive facial features, short limbs, and skeletal abnormalities. Despite having a very small head, most individuals with MOPD II have near-normal intelligence, which distinguishes this condition from many other forms of primordial dwarfism. Beyond the growth and skeletal issues, MOPD II carries important medical risks. One of the most serious concerns is the development of abnormal blood vessels in the brain (cerebral aneurysms or moyamoya disease), which can lead to strokes. Individuals may also develop insulin resistance or diabetes, dental problems, and vision issues. There is currently no cure for MOPD II, and treatment focuses on managing symptoms and monitoring for complications. Regular brain imaging to screen for blood vessel abnormalities is a critical part of care. With careful medical surveillance and proactive management of complications, many individuals with MOPD II can live into adulthood, though lifespan may be shortened compared to the general population.
Key symptoms:
Extremely short stature present from birthVery small head size (microcephaly)Low birth weight and lengthShort arms and legs relative to the bodyDistinctive facial features including a prominent nose and small jawSkeletal abnormalities such as thin bones and hip problemsDental problems including small, crowded, or missing teethHigh-pitched voiceAbnormal blood vessels in the brain (risk of aneurysms or moyamoya)Insulin resistance or type 2 diabetesVision problems such as farsightedness or detached retinaScoliosis or other spine curvatureSkin pigmentation changes (café-au-lait spots)Near-normal to normal intelligence in most casesFeeding difficulties in infancy
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)
FDA & Trial Timeline
1 eventData sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.
Treatments
No FDA-approved treatments are currently listed for Microcephalic osteodysplastic primordial dwarfism type II.
1 clinical trialare actively recruiting — trials can provide access to cutting-edge therapies.
View clinical trials →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 osteodysplastic primordial dwarfism type II.
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Caregiver Resources
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Questions for your doctor
Bring these to your next appointment
- Q1.How often should brain imaging (MRI/MRA) be done to screen for blood vessel problems?,What are the warning signs of a stroke or brain aneurysm that I should watch for?,Should my child be screened for insulin resistance or diabetes, and how often?,Are there any orthopedic concerns we should be monitoring, such as hip or spine problems?,What school or workplace accommodations would you recommend?,Is genetic counseling available for our family to understand the risk for future pregnancies?,Are there any clinical trials or research studies we could participate in?
Common questions about Microcephalic osteodysplastic primordial dwarfism type II
What is Microcephalic osteodysplastic primordial dwarfism type II?
Microcephalic osteodysplastic primordial dwarfism type II (MOPD II), also known as Majewski osteodysplastic primordial dwarfism type II, is an extremely rare genetic condition that causes severe growth restriction beginning before birth. People with MOPD II are among the smallest individuals in the world, often reaching an adult height of only about 3 feet (approximately 100 cm) or less. The condition affects many parts of the body. The hallmark features include a very small head size (microcephaly), distinctive facial features, short limbs, and skeletal abnormalities. Despite having a very sm
How is Microcephalic osteodysplastic primordial dwarfism type II inherited?
Microcephalic osteodysplastic primordial dwarfism type II follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Microcephalic osteodysplastic primordial dwarfism type II typically begin?
Typical onset of Microcephalic osteodysplastic primordial dwarfism type II is neonatal. Age of onset can vary across affected individuals.
Are there clinical trials for Microcephalic osteodysplastic primordial dwarfism type II?
Yes — 1 recruiting clinical trial is currently listed for Microcephalic osteodysplastic primordial dwarfism type II on UniteRare. See the clinical trials section on this page for phase, sponsor, and site details sourced from ClinicalTrials.gov.
Which specialists treat Microcephalic osteodysplastic primordial dwarfism type II?
2 specialists and care centers treating Microcephalic osteodysplastic primordial dwarfism type II are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.