Living with Microcephaly-brain defect-spasticity-hypernatremia syndrome
A rare genetic syndrome present from birth, with a small head, brain differences, muscle stiffness, and delayed development.
Understanding Microcephaly-brain defect-spasticity-hypernatremia syndrome
This syndrome is marked by a small head (microcephaly), stiff muscles (hypertonia), delayed development, and trouble swallowing. People may also have high sodium levels in the blood (hypernatremia). Brain scans may show that parts of the frontal brain are underdeveloped. GARD notes there have been no further descriptions in the medical literature since 1986.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Smaller-than-average head size (microcephaly)
- Thinking and learning difficulties (cognitive impairment)
- Muscle stiffness or spasms (spasticity)
- Thinning of the outer layer of the brain (cortical atrophy)
- A brain-formation difference called holoprosencephaly
- Abnormal lab results related to the body's balance
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 (also called variants) cause this syndrome. GARD does not list the specific gene.
Also known as: franek bocker kahlen syndrome; franek-bocker-kahlen syndrome; microcephalus, brain defect, spasticity, hypernatremia 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 Microcephaly-brain defect-spasticity-hypernatremia syndrome.
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