Living with Distal chromosome 18q deletion syndrome
A chromosome condition with wide-ranging effects, including short height, low muscle tone, hearing loss, and delayed brain myelination.
Understanding Distal chromosome 18q deletion syndrome
Signs and symptoms vary widely. Common features include short height, weak muscle tone (hypotonia), hearing loss from narrow or absent ear canals, and foot differences such as clubfoot. Some people also have eye movement problems, a cleft palate, an underactive thyroid, heart or kidney differences, or mild facial differences. It can also affect the nervous system, with slower than usual development of myelin, the coating that insulates nerve cells.
Signs & symptoms
Symptoms vary from person to person. GARD's summary describes these as common features:
- Short height, sometimes from low growth hormone
- Weak muscle tone (hypotonia)
- Hearing loss from narrow or absent ear canals
- Foot differences such as clubfoot
- Eye movement and vision problems
- Cleft palate (opening in the roof of the mouth)
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 rare disease patient organizations for support
- 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
The condition happens when a piece of the long (q) arm of chromosome 18 is missing. The missing piece is near one end of the chromosome, which is what "distal" means.
Also known as: distal 18q deletion; distal 18q deletion syndrome; distal 18q-; distal monosomy 18q
Patient organizations
Rare-disease groups that can help
- 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 Distal chromosome 18q deletion syndrome.
Explore research for Distal chromosome 18q deletion syndrome
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