Living with Asxl3-related disorder
A rare genetic condition that affects learning and growth, with a small head, feeding difficulties, and developmental delay.
Understanding Asxl3-related disorder
People may have a small head (microcephaly), severe feeding difficulties, and slow growth. Global developmental delay is often severe and can lead to speech delays, intellectual disability, and low muscle tone. Features can include a large forehead, wide-set eyes, a long nose, loose joints, and wrists that bend inward. It is seen from pregnancy through infancy.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Small head (microcephaly)
- Feeding difficulties in infancy
- Delayed development
- Absent or very delayed speech
- Low muscle tone (floppy infant)
- Autistic behavior
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 ASXL3 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 may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: ASXL Rare Research Endowment 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
GARD says changes in the ASXL3 gene cause this condition. It is autosomal dominant, meaning one changed copy of the gene is enough to cause it.
Also known as: bainbridge ropers syndrome; bainbridge-ropers syndrome; brps; Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome; severe feeding difficulties, failure to thrive, microcephaly due to asxl transcriptional regulator 3 deficiency syndrome; severe feeding difficulties, failure to thrive, microcephaly due to asxl3 deficiency syndrome
Patient organizations
- ASXL Rare Research Endowment FoundationAsxl3-related disorder · United States
- Simons SearchlightAsxl3-related disorder · United States
You are more than your diagnosis
Perspectives from people navigating life with Asxl3-related disorder.
Explore research for Asxl3-related disorder
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