Living with Nicolaides-Baraitser syndrome
A genetic condition affecting many body systems, with sparse hair, short stature, distinct facial features, seizures and intellectual disability.
Understanding Nicolaides-Baraitser syndrome
Common features are sparse scalp hair, small head size (microcephaly), distinct facial features, short stature, prominent finger joints, short fingers and toes, seizures, and moderate to severe intellectual disability with delayed language. Sparse hair is often noticeable in infancy. Signs and symptoms vary from person to person.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Sparse scalp hair
- Small head size (microcephaly)
- Broad fingertips and prominent finger joints
- Seizures, including brief staring spells (absence seizures)
- Delayed development overall
- Difficulty finding words (aphasia)
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 SMARCA2 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 SMARCA2 gene cause this condition. It is inherited in an autosomal dominant way, meaning one changed copy of the gene can be enough to cause it.
Also known as: intellectual disability-sparse hair-brachydactyly syndrome; ncbrs; smarca2-related bafopathy; smarca2-related nicolaides-baraitser 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 Nicolaides-Baraitser syndrome.
Explore research for Nicolaides-Baraitser syndrome
Explore actively recruiting Nicolaides-Baraitser syndrome studies with HealthSpark.
Find actively recruiting studies for Nicolaides-Baraitser syndrome with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
Powered by HealthSpark, our AI chat helper
I can help you find recruiting Nicolaides-Baraitser syndrome studies. Enter a ZIP code, address or city below and I'll look within 50 miles.
Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
Get Signals for Nicolaides-Baraitser syndrome
Stay in the loop with community stories and updates from medical researchers.
Create a living journal that talks back
HealthStory evolves private journaling with a living AI journal that talks back and asks thoughtful questions, helping you capture your Nicolaides-Baraitser syndrome experiences more deeply and prepare for better conversations with your doctors and care team.
Your journal is private. Sharing your story publicly is a separate choice, made with Share your story above.