Living with Chromosome 15q24 deletion syndrome
A rare condition from a missing piece of chromosome 15 that affects growth, learning, and facial features.
Understanding Chromosome 15q24 deletion syndrome
It can cause slow growth before and after birth, intellectual disability, and distinct facial features. People may also have differences in the genitals, bones, and fingers. GARD lists onset in childhood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Global developmental delay
- Intellectual disability
- Short stature and slow growth
- Low muscle tone (hypotonia)
- Short fingers or toes
- Frequent infections
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 SIN3A 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
- Brain and nervous system specialists (neurologists); 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 Simons Searchlight 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 it is caused by a missing piece of chromosome 15 at q24. The SIN3A gene is listed.
Also known as: 15q24 microdeletion syndrome; 15q24 recurrent microdeletion syndrome; del(15)(q24); monosomy 15q24
Patient organizations
- Simons SearchlightChromosome 15q24 deletion syndrome · United States
- Chromosome Disorder OutreachChromosome disorders · United States
You are more than your diagnosis
Perspectives from people navigating life with Chromosome 15q24 deletion syndrome.
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