Living with Microcephalic osteodysplastic primordial dwarfism types I and III
A rare genetic condition with slow growth before and after birth, a small head, bone differences, and brain differences.
Understanding Microcephalic osteodysplastic primordial dwarfism types I and III
It also involves distinct facial features and brain differences. Other signs include sparse hair and eyebrows, dry skin, short limbs, hip and elbow dislocation, seizures, and intellectual disability. It starts in pregnancy, at birth, or in infancy.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Slow growth before and after birth
- Small head (microcephaly)
- Short limbs and bone differences
- Absent collarbone
- Kidney differences
- Breathing difficulty
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, eye disease specialists and genetic specialists.
- 3Consider genetic testing
Changes in RNU4ATAC 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); Eye disease specialists (ophthalmologists); Genetic specialists (geneticists)
- 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 RNU4ATAC gene cause this condition. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: microcephalic osteodysplastic primordial dwarfism taybi linder type; microcephalic osteodysplastic primordial dwarfism, taybi-linder type; mopd types i and iii; primordial microcephalic dwarfism crachami type; primordial microcephalic dwarfism, crachami type; taybi linder syndrome
Patient organizations
- Little People of AmericaMicrocephalic osteodysplastic primordial dwarfism types I and III · United States
You are more than your diagnosis
Perspectives from people navigating life with Microcephalic osteodysplastic primordial dwarfism types I and III.
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