Living with Microcephalic osteodysplastic primordial dwarfism type II
A rare inherited condition with very short stature that starts before birth, a small head, and often normal intelligence.
Understanding Microcephalic osteodysplastic primordial dwarfism type II
Growth problems begin before birth and continue after birth. Other bone differences include hip dysplasia, thin arm and leg bones, scoliosis, and short wrist bones. Head growth slows over time, but GARD says intellectual development is typically normal. Many people have blood vessel differences, such as brain aneurysms and Moyamoya disease.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Very short stature
- Small head (microcephaly)
- Small teeth and missing teeth
- High-pitched voice
- Loose joints
- Hip differences
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include bone and joint specialists, brain and nervous system specialists, genetic specialists and hormone specialists.
- 3Consider genetic testing
Changes in PCNT are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
Little People of America may keep lists of experts for this condition.
Care & treatment
- Care team
- Bone and joint specialists (orthopedists or orthopedic surgeons); Brain and nervous system specialists (neurologists); Genetic specialists (geneticists); Hormone specialists (endocrinologists)
- Expert care
- Expert lists: Little People of America
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Little People of America
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in the PCNT gene cause this condition. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: majewski osteodysplastic primordial dwarfism type ii; microcephalic osteodysplastic primordial dwarfism with tooth abnormalities; mopd (microcephalic osteodysplastic primordial dwarfism) type ii; mopd ii; mopd type ii; mopd2
Patient organizations
- Little People of AmericaMicrocephalic osteodysplastic primordial dwarfism type II · United States
You are more than your diagnosis
Perspectives from people navigating life with Microcephalic osteodysplastic primordial dwarfism type II.
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