Living with Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome
A rare genetic condition with low muscle tone in infancy, eye movement problems, and developmental delay.
Understanding Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome
Features include low muscle tone in infancy, eye problems present from birth, global developmental delay, intellectual disability, behavior differences, and movement disorders. Mild facial differences and skeletal differences have been reported. EEG tests show marked changes without clear seizures.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Low muscle tone in infancy (floppy infant)
- Crossed eyes (strabismus)
- No speech
- Overactive movements (hyperkinesia)
- Sleep problems
- 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, eye disease specialists and genetic specialists.
- 3Consider genetic testing
Changes in SYT1 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); Eye disease specialists (ophthalmologists); 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 Baker-Gordon 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
Changes in the SYT1 gene cause this condition. It is inherited in an autosomal dominant pattern, meaning one changed copy of the gene can be enough.
Also known as: baker gordon syndrome; baker-gordon syndrome; infantile hypotonia, oculomotor anomalies, hyperkinetic movements, developmental delay syndrome; neurodevelopmental disorder with involuntary movement and abnormal electroencephalogram; synaptotagmin 1-related neurodevelopmental disorder; syt1-related neurodevelopmental disorder
Patient organizations
- Baker-Gordon Syndrome FoundationInfantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome · United States
You are more than your diagnosis
Perspectives from people navigating life with Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome.
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