Living with Microphthalmia, syndromic 12
A genetic syndrome with small eyes, small lungs, a hole in the diaphragm, and movement problems with delayed development.
Understanding Microphthalmia, syndromic 12
Main features are small eyeballs (microphthalmia), lungs that are too small (pulmonary hypoplasia), and a diaphragmatic hernia, which is a hole in the muscle between the chest and belly. People also have progressive movement problems, severe delay in development, and severe feeding problems. Brain differences, such as Chiari type I malformation and hydrocephaly (extra fluid in the brain), can occur.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Small eyeballs (microphthalmia)
- Hole in the diaphragm (diaphragmatic hernia)
- Underdeveloped lungs (pulmonary hypoplasia)
- Intellectual disability
- Movement problems such as stiffness or dystonia
- Severe feeding problems
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, digestive system specialists, eye disease specialists and genetic specialists.
- 3Consider genetic testing
Changes in RARB 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); Digestive system specialists (gastroenterologists); Eye disease specialists (ophthalmologists); 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
This syndrome is caused by changes in the RARB gene. It can be autosomal dominant (a changed copy from one parent is enough) or autosomal recessive (a changed copy from each parent).
Also known as: mcops12; microphthalmia with or without pulmonary hypoplasia, diaphragmatic hernia, and/or cardiac defects; microphthalmia, syndromic type 12; rarb syndromic microphthalmia; syndromic microphthalmia caused by mutation in rarb
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 Microphthalmia, syndromic 12.
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