Living with Megalencephaly-severe kyphoscoliosis-overgrowth syndrome
A rare genetic condition with overgrowth, a large head, developmental delay, and a curved spine.
Understanding Megalencephaly-severe kyphoscoliosis-overgrowth syndrome
Overgrowth and a large head are seen at birth. People have developmental delay, intellectual disability, and distinct facial features. They may be tall with long fingers, a curved spine, and loose joints. Neurologic signs can include low muscle tone, unsteady walking, or seizures. Brain scans may show differences.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Overgrowth and tall stature
- Large head size (macrocephaly)
- Severe intellectual disability
- Absent speech
- Unsteady walk (gait ataxia)
- Seizures
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, genetic specialists and hormone specialists.
- 3Consider genetic testing
Changes in HERC1 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); Hormone specialists (endocrinologists)
- 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 HERC1 gene cause this condition. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: megalencephaly, severe kyphoscoliosis, overgrowth 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 Megalencephaly-severe kyphoscoliosis-overgrowth syndrome.
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