Living with Familial thyroglossal duct cyst
A rare inherited form of a painless lump in the middle of the neck that is present from birth.
Understanding Familial thyroglossal duct cyst
TDC is the most common birth-related neck mass in the middle of the neck in children. It is a painless lump that moves when swallowing. Other signs can include size changes, trouble swallowing, infection, and mid-neck tenderness. It happens when the thyroid gland develops abnormally before birth.
Signs & symptoms
Symptoms vary from person to person. GARD's summary lists:
- Painless lump in the middle of the neck
- Lump that moves with swallowing
- Changes in the size of the lump
- Trouble swallowing (dysphagia)
- Infection of the lump
- Mid-neck tenderness
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 ear, nose, and throat specialists and hormone specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- Ear, nose, and throat specialists (otolaryngologists); Hormone specialists (endocrinologists)
- 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 cause is largely unknown and usually occurs by chance. In rare cases it is inherited, most often in an autosomal dominant way and rarely autosomal recessive.
Also known as: hereditary thyroglossal duct cyst; hereditary thyroglossal duct cysts; thyroglossal duct cysts; thyroglossal duct cysts familial
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 Familial thyroglossal duct cyst.
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