Living with Chromosome 6q24-q25 deletion syndrome
A recently described condition from a missing piece of chromosome 6 with developmental delay, facial differences, and hearing loss.
Understanding Chromosome 6q24-q25 deletion syndrome
GARD lists onset in the newborn period and infancy. Other listed features include a small head, vision and eye problems, and a missing corpus callosum in the brain.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Developmental delay
- Hearing loss
- Small head size (microcephaly)
- Eye and vision differences
- Differently shaped or back-turned ears
- Missing corpus callosum in the brain
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 genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- 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 Chromosome Disorder Outreach
- 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 it is caused by a missing piece (deletion) of chromosome 6 at q24-q25. It is listed as autosomal dominant.
Also known as: 6q25 microdeletion syndrome; chromosome 6q25-q25 deletion syndrome; del(6)(q25); monosomy 6q25
Patient organizations
- Chromosome Disorder OutreachChromosome disorders · 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 Chromosome 6q24-q25 deletion syndrome.
Explore research for Chromosome 6q24-q25 deletion syndrome
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