Living with Chromosome 6pter-p24 deletion syndrome
A missing piece at the end of chromosome 6 that causes learning disability, eye differences, hearing loss, and distinct facial features.
Understanding Chromosome 6pter-p24 deletion syndrome
Features include intellectual disability, eye differences, hearing loss, and facial differences. GARD lists onset during pregnancy, at birth, and in infancy. It also lists a hole in the wall between the heart's upper chambers.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Delayed speech and language
- Eye differences, such as cloudy cornea
- Crossed eyes (strabismus)
- Broad forehead
- Differences in teeth
- Hole in the heart wall (atrial septal defect)
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, eye disease specialists and genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Eye disease specialists (ophthalmologists); 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) at the end of the short arm of chromosome 6.
Also known as: 6p subtelomeric deletion syndrome; 6p25 microdeletion syndrome; chromosome 6pter-p24 deletion syndrome, isolated cases; distal deletion 6p; distal monosomy 6p; distal monosomy type 6p
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 6pter-p24 deletion syndrome.
Explore research for Chromosome 6pter-p24 deletion syndrome
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