This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
Medical Terms | Other Names | Learn More: HPO ID |
---|---|---|
80%-99% of people have these symptoms | ||
Abnormality of neutrophils | 0001874 | |
Arthralgia |
Joint pain
|
0002829 |
Short fingers or toes
|
0001156 | |
Elevated C-reactive protein level | 0011227 | |
Elevated |
High ESR
|
0003565 |
Fatigue |
Tired
Tiredness
[ more ]
|
0012378 |
Fever | 0001945 | |
Increased intracranial pressure |
Rise in pressure inside skull
|
0002516 |
Meningitis | 0001287 | |
Migraine |
Intermittent migraine headaches
Migraine headache
Migraine headaches
[ more ]
|
0002076 |
Myalgia |
Muscle ache
Muscle pain
[ more ]
|
0003326 |
Nausea and vomiting | 0002017 | |
Papule | 0200034 | |
Pseudopapilledema | 0000538 | |
Sensorineural hearing impairment | 0000407 | |
Urticaria |
Hives
|
0001025 |
Uveitis | 0000554 | |
30%-79% of people have these symptoms | ||
Abnormal |
Platelet abnormalities
|
0001872 |
Low number of red blood cells or hemoglobin
|
0001903 | |
Delayed closure of the anterior fontanelle |
Later than typical closing of soft spot of skull
|
0001476 |
Edema |
Fluid retention
Water retention
[ more ]
|
0000969 |
Frontal bossing | 0002007 | |
Hepatomegaly |
Enlarged liver
|
0002240 |
Joint dislocation |
Joint dislocations
Recurrent joint dislocations
[ more ]
|
0001373 |
Leukocytosis |
Elevated white blood count
High white blood count
Increased blood leukocyte number
[ more ]
|
0001974 |
Lymphadenopathy |
Swollen lymph nodes
|
0002716 |
Macrocephaly |
Increased size of skull
Large head
Large head circumference
[ more ]
|
0000256 |
Proptosis |
Bulging eye
Eyeballs bulging out
Prominent eyes
Prominent globes
Protruding eyes
[ more ]
|
0000520 |
Skeletal dysplasia | 0002652 | |
Splenomegaly |
Increased spleen size
|
0001744 |
5%-29% of people have these symptoms | ||
Blindness | 0000618 | |
0002353 | ||
Global |
0001263 | |
Growth delay |
Delayed growth
Growth deficiency
Growth failure
Growth retardation
Poor growth
Retarded growth
[ more ]
|
0001510 |
Intellectual disability |
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ]
|
0001249 |
Premature birth |
Premature delivery of affected infants
Preterm delivery
[ more ]
|
0001622 |
Purpura |
Red or purple spots on the skin
|
0000979 |
Reduced bone mineral density |
Low solidness and mass of the bones
|
0004349 |
Retrobulbar optic neuritis | 0100654 | |
Percent of people who have these symptoms is not available through HPO | ||
Joint inflammation
|
0001369 | |
0000006 | ||
Progressive sensorineural hearing impairment | 0000408 | |
Skin rash | 0000988 |
If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.
If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.
You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.
Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.
Conditions with similar signs and symptoms from Orphanet
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An infectious disease is often suspected at disease onset. CINCA should be differentiated from similar monogenic or multifactorial autoinflammatory diseases, including, systemic onset juvenile idiopathic arthritis, tumor necrosis factor receptor 1 associated periodic syndrome, and the severe form of mevalonate kinase deficiency, CANDLE syndrome as well as the milder phenotype associated to mutations of NLRP3 (familial cold urticarial and Muckle-Wells syndrome).
Visit the
Orphanet disease page
for more information.
|
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.
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.
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