Living with Pilarowski-Bjornsson syndrome
A rare genetic condition that causes developmental delay, speech difficulty and intellectual disability, starting in infancy.
Understanding Pilarowski-Bjornsson syndrome
It usually begins in infancy. People may have trouble planning the movements needed for speech (speech apraxia), autism-like behaviors and repeated movements, and some distinct facial features. Seizures or unusual brain wave tests (EEG) may also occur.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Delays in reaching developmental milestones
- Intellectual disability
- Trouble with speech (speech apraxia)
- Low muscle tone (hypotonia)
- Prominent forehead and pointed chin
- Allergies
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 CHD1 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 rare disease patient organizations for support
- 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 CHD1 gene cause this condition. It is autosomal dominant, meaning one changed copy of the gene is enough.
Also known as: developmental delay and speech apraxia with or without seizures; intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome; intellectual disability, autism, speech apraxia, craniofacial dysmorphism syndrome; pilarowski bjornsson syndrome
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Pilarowski-Bjornsson syndrome.
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