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)|
|Increased antibody level in blood||90%|
|Abnormality of temperature regulation||50%|
|Abnormality of the gastric mucosa||50%|
|Abnormality of the pharynx||50%|
|Feeding difficulties in infancy||50%|
|Opacification of the corneal stroma||50%|
|Recurrent respiratory infections||50%|
|Abnormal tendon morphology||7.5%|
|Abnormality of the pleura||7.5%|
|Abnormality of the renal tubule||7.5%|
|Abnormality of the sense of smell||7.5%|
|Chronic obstructive pulmonary disease||7.5%|
|Conductive hearing impairment||7.5%|
|Neurological speech impairment||7.5%|
|Reduced bone mineral density||7.5%|
|Salivary gland neoplasm||7.5%|
|Abnormality of metabolism/homeostasis||-|
|Autosomal recessive inheritance||-|
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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.
Nonprofit support and advocacy groups bring together patients, families, medical professionals, and researchers. These groups often raise awareness, provide support, and develop patient-centered information. Many are the driving force behind research for better treatments and possible cures. They can direct people to research, resources, and services. Many groups also have experts who serve as medical advisors. Visit their 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.
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Was I born with this or did I develop it through bad life style? Will my children have it? See answer
Is mixed connective tissue disorder more common in any ethnic population? See answer
What is the life expectancy of someone diagnosed with Sjogren syndrome? See answer