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Living with Yellow nail syndrome

A very rare condition with yellow nails, breathing and sinus problems, and swelling in the legs from trapped fluid.

Understanding Yellow nail syndrome

Yellow nail syndrome is a very rare condition with three main features: yellow nails, breathing problems and swelling of the lower legs (lymphedema).

The nails may also lack a cuticle, grow very slowly and lift away from the nail bed. Breathing problems can include chronic cough, damaged airways (bronchiectasis) and fluid around the lungs (pleural effusion). Chronic sinus infections may occur. It usually occurs alone but is sometimes linked with autoimmune disease, lymphatic disease or cancers.

Signs & symptoms

Symptoms vary from person to person. GARD lists these among the most common:

  • Yellow nails
  • Slow-growing or abnormal fingernails and toenails
  • Cough and trouble breathing
  • Repeated lung or breathing infections
  • Sinus and nose inflammation
  • Leg swelling from trapped fluid (lymphedema)

Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.

Diagnosis

  1. Talk with your doctor

    Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.

  2. See a specialist

    Specialists who may be involved include genetic specialists, lung and breathing specialists and skin, hair, and nail specialists.

  3. Consider genetic testing

    Changes in CELSR1 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
Genetic specialists (geneticists); Lung and breathing specialists (pulmonologists); Skin, hair, and nail specialists (dermatologists)
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 American Lung Association 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
Bring these questions to your next doctor visit
Could genetic testing of the CELSR1 gene be useful for me?
Which specialists should manage my nails, lungs and swelling?
How should I be monitored for the conditions it can be linked with?

Quick facts

Symptoms usually starta variety of ages
InheritanceAutosomal Dominant
GenesCELSR1

GARD says the cause remains unknown but lists changes in the CELSR1 gene. It is listed as autosomal dominant, meaning one changed copy of the gene can cause it.

GeneticRespiratorySkin

Also known as: hereditary lymphedema and yellow nails; lymphedema and yellow nails; lymphedema with yellow nails; yns

Patient organizations

Source: NIH GARD · Yellow nail syndromeGARD ID 184 · GARD page updated September 2026 · Plain-language summary by Know Rare; editorial review pending. General information, not medical advice.

You are more than your diagnosis

Perspectives from people navigating life with Yellow nail syndrome.

Explore the Yellow nail syndrome blog

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HealthSpark

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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.

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