Balus syndrome

Other Names

Arthrocutaneouveal granulomatosis; ACUG; Granulomatosis, familial, Blau type

Inheritance

Rare disease

Blau syndrome is a rare condition characterized mainly by skin rash, arthritis and uveitis.

Inheritance

It has variable expressivity and usually affects preschool age children younger than four years of age.

Clinical features

• Characteristic findings include synovial effusions (fluid in the joints due to inflammation) and cysts, anterior uveitis (swelling and irritation of the uvea) and focal posterior synechiae (adhesion of the iris to the cornea).
• Permanent bending of the fingers and toes (camptodactyly) and other findings have also been reported.

Cause

• It is caused by mutations in the NOD2 gene and is inherited in an autosomal dominant manner.
• Blau syndrome and early-onset sarcoidosis have the same symptoms and genetic cause, but early-onset sarcoidosis is caused by de novo (new) mutations and occurs sporadically (in individuals with no history of the disorder in the family)

Symptoms

• 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.

Diagnosis

• 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.

NIH genetic and rare disease info

• NIH info on Balus syndrome

Balus syndrome is a rare disease.

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