Living with Sotos syndrome
A genetic condition with fast growth in childhood, a large head, learning differences and distinctive facial features.
Understanding Sotos syndrome
Children grow quickly and are taller than siblings and peers, with a large head, but adult height is usually typical. Facial features include a long, narrow face, high forehead and small, pointed chin. Many have intellectual disability, speech problems and low muscle tone. Autism, ADHD and anxiety-related behaviors are common. Scoliosis, seizures, and heart, kidney, hearing or vision problems can occur.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Fast growth and large head
- Long, narrow face
- Delayed development
- Mild intellectual disability
- Speech and language problems
- Behavior differences
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 bone and joint specialists, brain and nervous system specialists, cancer specialists and eye disease specialists.
- 3Consider genetic testing
Changes in NSD1 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
- Bone and joint specialists (orthopedists or orthopedic surgeons); Brain and nervous system specialists (neurologists); Cancer specialists (oncologists); Eye disease specialists (ophthalmologists)
- 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 Simons Searchlight and other patient organizations
- 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
GARD lists changes in the NSD1 gene. It is most often inherited in an autosomal dominant pattern (one changed copy is enough), and an autosomal recessive pattern is also listed.
Also known as: cerebral giant; cerebral gigantism; cerebral gigantism syndrome; chromosome 5q35 deletion syndrome; distinctive facial appearance, overgrowth in childhood, and learning disabilities or delayed development; nsd1 sotos syndrome
Patient organizations
- Simons SearchlightSotos syndrome · United States
- Sotos Syndrome Support AssociationSotos syndrome · United States
- Chromosome Disorder OutreachChromosome disorders · United States
You are more than your diagnosis
Perspectives from people navigating life with Sotos syndrome.
Explore research for Sotos syndrome
Explore actively recruiting Sotos syndrome studies with HealthSpark.
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- Recruiting studies from ClinicalTrials.gov
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- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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