Living with Proximal chromosome 18q deletion syndrome
A chromosome condition from a missing piece of chromosome 18, often with developmental delay and distinct facial features.
Understanding Proximal chromosome 18q deletion syndrome
Features depend on the size and location of the deletion and the genes involved. They often include developmental delay, intellectual disability, and distinct facial features. Some people also have seizures, low muscle tone, speech and language delays, obesity, or short stature.
Signs & symptoms
Symptoms vary from person to person. GARD says these often occur:
- Delays in development
- Intellectual disability
- Distinct facial features
- Seizures
- Low muscle tone (hypotonia)
- Speech and language delays
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
Your doctor may refer you to a specialist who knows rare conditions.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- A doctor familiar with rare conditions, plus specialists as needed
- 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
It is caused by a missing piece of chromosome 18. In most cases the parents have no chromosome change, but sometimes a parent has a balanced translocation, which raises the chance of having a child with a deletion.
Also known as: proximal 18q deletion; proximal 18q deletion syndrome; proximal 18q-
Patient organizations
- Chromosome Disorder OutreachProximal chromosome 18q deletion syndrome · United States
You are more than your diagnosis
Perspectives from people navigating life with Proximal chromosome 18q deletion syndrome.
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