Living with Bonnemann-Meinecke-Reich syndrome
An extremely rare genetic syndrome with brain, growth, and development differences, described in only two families.
Understanding Bonnemann-Meinecke-Reich syndrome
It has been described in two families, each with two affected siblings. Features include mild facial differences, early fusion of skull bones (craniosynostosis), short stature from low growth hormone, intellectual disability, stiffness, unsteadiness, and retinal changes. There have been no new reports since 1991.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Short stature
- Mild intellectual disability
- Muscle stiffness (spasticity)
- Small head (microcephaly)
- Calcium deposits in the brain
- Enlarged fluid spaces in the brain (ventriculomegaly)
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.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
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 genes cause this condition. An autosomal recessive pattern has been suggested, which means a child would inherit a changed copy of the gene from each parent.
Also known as: encephalopathy with intracranial calcification, growth hormone deficiency, microcephaly, and retinal degeneration; encephalopathy-intracerebral calcification-retinal degeneration syndrome
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 Bonnemann-Meinecke-Reich syndrome.
Explore research for Bonnemann-Meinecke-Reich syndrome
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- Recruiting studies from ClinicalTrials.gov
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