Living with Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
A genetic condition (also called GAND) that affects brain development, speech, muscle tone and facial features.
Understanding Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
GAND causes moderate to severe intellectual disability, poor speech development, and a large head size. Children may also have low muscle tone, feeding problems, heart problems and shared facial features. Because few cases have been described, it is hard to know how the condition changes over time. Diagnosis is based on symptoms, an exam and genetic testing.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Severe intellectual disability
- Poor speech
- Global developmental delay
- Low muscle tone as an infant (floppy infant)
- Crossed eyes (strabismus)
- Brief seizures with staring spells
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 GATAD2B 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 Helping Hands for GAND
- 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
GAND is caused by a GATAD2B gene that is missing or not working correctly. It usually appears in a family for the first time because of a new genetic change, and it can be passed on in an autosomal dominant pattern.
Also known as: autosomal dominant intellectual disability 18; gand; gand syndrome; intellectual disability, autosomal dominant type 18; mrd18
Patient organizations
- Helping Hands for GANDSevere intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome · United States
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