Living with Microcephaly-cervical spine fusion anomalies syndrome
A rare inherited syndrome with a small head, short stature, mild learning challenges, and fused neck bones.
Understanding Microcephaly-cervical spine fusion anomalies syndrome
People with this syndrome have a small head (microcephaly), mild intellectual disability, short stature, and certain facial features. Bones in the neck are fused, which can press on the spinal cord. GARD says it has been described in two brothers whose parents were related. Signs may appear during pregnancy or in the newborn period.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Smaller-than-average head size (microcephaly)
- Fused bones in the neck
- Mild intellectual disability
- Small lower jaw (micrognathia)
- Hunched back (kyphosis)
- Increased reflexes (hyperreflexia)
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, and it is likely inherited in an autosomal recessive way. This means a child inherits a changed copy of the gene from each parent.
Also known as: microcephalus co-occurrent with cervical spine fusion anomaly; microcephaly with cervical spine fusion anomalies; microcephaly with cervical spine fusion anomaly
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-cervical spine fusion anomalies syndrome.
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