Living with Seizures-scoliosis-macrocephaly syndrome
A rare genetic condition with seizures, a large head, curved spine, low muscle tone, and kidney differences.
Understanding Seizures-scoliosis-macrocephaly syndrome
It includes seizures, a large head (macrocephaly), delayed motor milestones, moderate intellectual disability, scoliosis, and low muscle tone since birth. It also includes kidney problems. Facial features are coarse, and boys may have undescended testes. Digestive movement problems, reflux, and heart wall holes may occur. It begins in infancy.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Large head size (macrocephaly)
- Global developmental delay
- Low muscle tone
- Intellectual disability
- Kidney differences
- Constipation and acid reflux
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 seizure and epilepsy specialists.
- 3Consider genetic testing
Changes in EXT2 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
Epilepsy Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists); Seizure and epilepsy specialists (epileptologist)
- Expert care
- Expert lists: Epilepsy Foundation
- 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 Epilepsy Foundation
- 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
It is caused by changes in the EXT2 gene. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: seizures, scoliosis, and macrocephaly syndrome; seizures, scoliosis, and macrocephaly/microcephaly syndrome; seizures, scoliosis, macrocephaly syndrome; ssm (seizures, scoliosis, macrocephaly) syndrome; ssm syndrome; ssms
Patient organizations
- Epilepsy FoundationEpilepsy · United States
Broader rare-disease groups
- 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 Seizures-scoliosis-macrocephaly syndrome.
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