Living with Snijders Blok-Campeau syndrome
A genetic condition with intellectual disability, speech problems and distinctive facial features.
Understanding Snijders Blok-Campeau syndrome
Intellectual disability ranges from mild to severe. Some people have limited language, others only a few words, and some never speak. Speech usually develops after age 2. Some have low muscle tone, seizures or autistic behaviors. People often have a very social personality. Eyes are often affected, and most have a large head. It starts in the newborn and infant period.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Delayed speech and language
- Intellectual disability
- Global developmental delay
- Low muscle tone (hypotonia)
- Large head (macrocephaly)
- Widely spaced eyes
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 CHD3 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 Simons Searchlight
- 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 CHD3 gene. It is inherited in an autosomal dominant pattern, meaning one changed copy of the gene is enough.
Also known as: chd3-related developmental delay-speech delay-intellectual disability-abnormalities of vision-facial dysmorphism syndrome; chd3-related developmental delay, speech delay, intellectual disability, abnormalities of vision, facial dysmorphism syndrome; chromodomain helicase dna-binding protein 3- related developmental delay, speech delay, intellectual disability, abnormalities of vision, facial dysmorphism syndrome; intellectual developmental disorder with macrocephaly, speech delay, and dysmorphic facies
Patient organizations
- Simons SearchlightSnijders Blok-Campeau syndrome · United States
You are more than your diagnosis
Perspectives from people navigating life with Snijders Blok-Campeau syndrome.
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