Living with 8q24.3 microdeletion syndrome
A genetic condition that can bring feeding problems, slow growth, developmental delay, and differences in the heart, kidneys, and bones.
Understanding 8q24.3 microdeletion syndrome
It brings feeding problems, slow growth, a smaller head, developmental delay, and finger and spine differences. Joints may be loose or dislocate. Heart and kidney differences and distinct facial features are common. Some people have sleep apnea, repeated pneumonia, or seizures. GARD lists onset as during pregnancy and as a newborn.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Global developmental delay
- Feeding difficulties in infancy
- Expressive language delay
- Heart differences
- Very flexible joints
- Reduced visual sharpness
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, genetic specialists and heart and blood vessel specialists.
- 3Consider genetic testing
Changes in PUF60 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Bone and joint specialists (orthopedists or orthopedic surgeons); Brain and nervous system specialists (neurologists); Genetic specialists (geneticists); Heart and blood vessel specialists (cardiologists)
- 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 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 PUF60 gene are listed. The condition is listed as autosomal dominant.
Also known as: chromosome 8q24.3 deletion syndrome; del(8)(q24.3); deletion 8q24.3; monosomy 8q24.3; verheij syndrome
Patient organizations
- Chromosome Disorder OutreachChromosome disorders · United States
- National Kidney FoundationKidney diseases · United States
- Renal Support NetworkKidney diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with 8q24.3 microdeletion syndrome.
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