Living with Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome
A genetic brain condition, also called Smith-Kingsmore syndrome, with a large head, intellectual disability, and seizures.
Understanding Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome
In some people, speech is delayed or never develops. Some children have ADHD or autism spectrum disorder. Brain differences can include enlargement of one or both sides of the brain, extra ridges on the brain surface, or larger fluid spaces. Many have distinctive facial features, but not everyone does.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Larger than usual head (macrocephaly)
- Seizures
- Global developmental delay
- Speech differences
- Frontal bossing (prominent forehead)
- Curly hair
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.
- 3Consider genetic testing
Changes in MTOR 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)
- 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 Smith-Kingsmore Syndrome 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 MTOR gene. A person can have it after inheriting one changed copy of the gene (autosomal dominant).
Also known as: macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome; minds (macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax) syndrome; minds syndrome; smith kingsmore syndrome; smith-kingsmore syndrome
Patient organizations
- Smith-Kingsmore Syndrome FoundationMacrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome · United States
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