Living with Bohring-Opitz syndrome
A rare genetic condition that affects the development of many body parts, including learning, seizures, and the eyes.
Understanding Bohring-Opitz syndrome
Most people have profound to severe intellectual disability, developmental delay, and seizures. Some have a small head or a pointed forehead, and some have differences in brain structure. Eye problems that can affect vision are common. Features can start during pregnancy or in the newborn period.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Severe intellectual disability
- Seizures
- Feeding difficulties in infancy
- Low muscle tone
- Small head (microcephaly)
- Bulging eyes and other eye differences
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 bone and joint specialists, brain and nervous system specialists and genetic specialists.
- 3Consider genetic testing
Changes in ASXL1 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
ASXL Rare Research Endowment Foundation and World Craniofacial Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Bone and joint specialists (orthopedists or orthopedic surgeons); Brain and nervous system specialists (neurologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: ASXL Rare Research Endowment Foundation, World Craniofacial 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 ASXL Rare Research Endowment Foundation and other patient organizations
- 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 ASXL1 gene cause this condition. It is autosomal dominant, so one changed copy of the gene is enough.
Also known as: bohring opitz syndrome; bohring syndrome; bos syndrome; c-like syndrome; oberklaid-danks syndrome; opitz trigonocephaly-like syndrome
Patient organizations
- ASXL Rare Research Endowment FoundationBohring-Opitz syndrome · United States
- Bohring-Opitz Syndrome Foundation, Inc.Bohring-Opitz syndrome · United States
- World Craniofacial FoundationCraniofacial anomalies · United States
- Children's Craniofacial AssociationCraniofacial anomalies · United States
- FACES: The National Craniofacial AssociationCraniofacial anomalies · United States
- myFaceCraniofacial anomalies · United States
You are more than your diagnosis
Perspectives from people navigating life with Bohring-Opitz syndrome.
Explore research for Bohring-Opitz syndrome
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