The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.
| Signs and Symptoms | Approximate number of patients (when available) |
| Bronchiectasis | Very frequent (present in 80%-99% of cases) |
| Fingernail dysplasia | Very frequent (present in 80%-99% of cases) |
| Hypoplasia of lymphatic vessels | Very frequent (present in 80%-99% of cases) |
| Lymphedema | Very frequent (present in 80%-99% of cases) |
| Toenail dysplasia | Very frequent (present in 80%-99% of cases) |
| Yellow nails | Very frequent (present in 80%-99% of cases) |
| Cough | Frequent (present in 30%-79% of cases) |
| Dyspnea | Frequent (present in 30%-79% of cases) |
| Pleuritis | Frequent (present in 30%-79% of cases) |
| Recurrent respiratory infections | Frequent (present in 30%-79% of cases) |
| Rhinitis | Frequent (present in 30%-79% of cases) |
| Sinusitis | Frequent (present in 30%-79% of cases) |
| Biliary tract |
Occasional (present in 5%-29% of cases) |
| Generalized abnormality of skin | Occasional (present in 5%-29% of cases) |
| Occasional (present in 5%-29% of cases) |
|
| Neoplasm of the lung | Occasional (present in 5%-29% of cases) |
| Nephropathy | Occasional (present in 5%-29% of cases) |
| Onycholysis | Occasional (present in 5%-29% of cases) |
| Pulmonary arterial |
Occasional (present in 5%-29% of cases) |
| Renal neoplasm | Occasional (present in 5%-29% of cases) |
| Occasional (present in 5%-29% of cases) |
|
| Abnormality of the musculature | - |
| - | |
| Predominantly lower limb lymphedema | - |
| Slow-growing nails | - |
Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.
Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question
How is yellow nail syndrome treated? Can it be treated or not? See answer
Has a genetic cause of familial yellow nail syndrome been discovered? See answer
What lung conditions are commonly associated with yellow nail syndrome? How are they treated? See answer
