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) |
| Arthralgia | Very frequent (present in 80%-99% of cases) |
| Very frequent (present in 80%-99% of cases) |
|
| Broad foot | Very frequent (present in 80%-99% of cases) |
| Conjunctivitis | Very frequent (present in 80%-99% of cases) |
| Cranial nerve paralysis | Very frequent (present in 80%-99% of cases) |
| Episcleritis | Very frequent (present in 80%-99% of cases) |
| Hepatomegaly | Very frequent (present in 80%-99% of cases) |
| Progressive sensorineural hearing impairment | Very frequent (present in 80%-99% of cases) |
| Skin rash | Very frequent (present in 80%-99% of cases) |
| Splenomegaly | Very frequent (present in 80%-99% of cases) |
| Uveitis | Very frequent (present in 80%-99% of cases) |
| Elevated |
Frequent (present in 30%-79% of cases) |
| Nephropathy | Frequent (present in 30%-79% of cases) |
| Nephrotic syndrome | Frequent (present in 30%-79% of cases) |
| Renal amyloidosis | Frequent (present in 30%-79% of cases) |
| Urticaria | Frequent (present in 30%-79% of cases) |
| Abnormality of the genital system | Occasional (present in 5%-29% of cases) |
| Abnormality of the nose | Occasional (present in 5%-29% of cases) |
| Abnormality of the palate | Occasional (present in 5%-29% of cases) |
| Abnormality of the voice | Occasional (present in 5%-29% of cases) |
| Occasional (present in 5%-29% of cases) |
|
| Camptodactyly of finger | Occasional (present in 5%-29% of cases) |
| Delayed puberty | Occasional (present in 5%-29% of cases) |
| Fever | Occasional (present in 5%-29% of cases) |
| Occasional (present in 5%-29% of cases) |
|
| Hernia of the abdominal wall | Occasional (present in 5%-29% of cases) |
| Ichthyosis | Occasional (present in 5%-29% of cases) |
| Macrocephaly | Occasional (present in 5%-29% of cases) |
| Myalgia | Occasional (present in 5%-29% of cases) |
| Optic atrophy | Occasional (present in 5%-29% of cases) |
| Pes cavus | Occasional (present in 5%-29% of cases) |
| Recurrent aphthous stomatitis | Occasional (present in 5%-29% of cases) |
| Restrictive ventilatory defect | Occasional (present in 5%-29% of cases) |
| Vasculitis | Occasional (present in 5%-29% of cases) |
| Abnormality of the skin | - |
| - | |
| Episodic fever | - |
| Hearing impairment | - |
| Infantile onset | - |
| Leukocytosis | - |
| Renal insufficiency | - |
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.
Don’t Miss the NCATS Toolkit for Patient-Focused Therapy Development Event
August 31, 2017
Funding Opportunities Now Available for the Undiagnosed Diseases Network (UDN) Phase II
August 30, 2017
IRDiRC Goals 2017-2027: New Rare Disease Research Goals for the Next Decade
August 10, 2017
Young Investigator Initiative Career Development and Grant Mentoring Program
June 21, 2016
Autoinflammation 2013: The Seventh International Congress of FMF and Autoinflammatory Diseases Wednesday, May 22, 2013 -
Sunday, May 26, 2013
Location:
Lausanne,
Switzerland
Description: The goals of this meeting include the exchange of clinical and scientific information regarding the autoinflammatory diseases. This is likely to result in improvements in the diagnosis and treatment of these diseases. Past Congresses have resulted in new scientific collaborations, development of registries for patients with specific autoinflammatory disorders, and the initiation of multicenter clinical trials.
Contact: Daniel Kastner, M.D., Ph.D., 301-496-8364kastnerd@nih.gov
Co-funding Institute(s): National Human Genome Research Institute, Office of Rare Diseases Research
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
Is there a written language expressive disorder, or component, noted with Muckle Wells syndrome? It would be helpful to know if there are any educational learning disabilities associated with this syndrome other than potential for hearing loss and related concerns with hearing loss. See answer
Is Muckle-Wells Syndrome life threatening? See answer
