Living with Say-Barber-Miller syndrome
A rare syndrome with a small head, developmental delay, facial differences, and immune system problems that can cause repeated infections.
Understanding Say-Barber-Miller syndrome
Features include a small head, developmental delay, intellectual disability, and slow growth after birth. Facial features include a sloping forehead, a beaked nose, large ears, and a small jaw. Immune differences can lead to repeated infections, and autoimmune or inflammatory problems occur. Skeletal differences and low hormone activity have been reported.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Global developmental delay
- Small head size (microcephaly)
- Early fusion of skull bones (craniosynostosis)
- Delayed speech
- Immune cell movement problems (impaired neutrophil chemotaxis)
- Tight elbows and knees (contractures)
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 allergy and immune system specialists, brain and nervous system specialists and genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
Immune Deficiency Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Allergy and immune system specialists (allergists / immunologists); Brain and nervous system specialists (neurologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: Immune Deficiency Foundation
- 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 Immune Deficiency 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
It is autosomal recessive, so a child inherits a changed copy of a gene from each parent. GARD does not name a gene.
Also known as: microcephaly with chemotactic defect and transient hypogammaglobulinemia; microcephaly-hypogammaglobulinemia-abnormal immunity syndrome
Patient organizations
- Immune Deficiency FoundationPrimary immunodeficiency · United States
Broader rare-disease groups
- 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 Say-Barber-Miller syndrome.
Explore research for Say-Barber-Miller syndrome
Explore actively recruiting Say-Barber-Miller syndrome studies with HealthSpark.
Find actively recruiting studies for Say-Barber-Miller 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 Say-Barber-Miller 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 Say-Barber-Miller 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 Say-Barber-Miller 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.