Living with Microcephalic primordial dwarfism due to RTTN deficiency
A rare inherited brain development condition with a small head, intellectual disability, and short stature.
Understanding Microcephalic primordial dwarfism due to RTTN deficiency
People have a very small head (primary microcephaly), moderate to severe intellectual disability, and global developmental delay. Brain differences are common, including changes in how the brain folds. Short stature is often seen and may be severe. It starts in newborns and infants.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Small head (microcephaly)
- Severe intellectual disability
- Developmental delay
- Severe short stature
- Poor weight gain
- Extra brain folds (polymicrogyria)
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 brain and nervous system specialists and genetic specialists.
- 3Consider genetic testing
Changes in RTTN are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- 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 rare disease patient organizations for support
- 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 RTTN 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 cortical malformations-short stature due to rttn deficiency; microcephalic cortical malformations, short stature due to rotatin deficiency; microcephalic cortical malformations, short stature due to rttn (rotatin) deficiency; microcephalic cortical malformations, short stature due to rttn deficiency; microcephaly, short stature, and polymicrogyria; microcephaly, short stature, and polymicrogyria with or without seizures
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Microcephalic primordial dwarfism due to RTTN deficiency.
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