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)|
|Neurological speech impairment||50%|
|Antiphospholipid antibody positivity||-|
|Autosomal dominant inheritance||-|
The cause of Sneddon syndrome is not well understood. It is possible that the syndrome has more than one cause (or way in which it may develop in a person). Some people
develop Sneddon syndrome in association with other medical conditions
such as obliterating vasculitis and antiphospholipid antibody syndrome.
Most cases of Sneddon syndrome occur in people with no other family
history of the condition, however there have been a few families with more than one member affected. A recent study found that in one
family, Sneddon syndrome developed as a result of inheriting two
changes in the CECR1 gene.
In this family, Sneddon syndrome was inherited in an autosomal recessive fashion. Other case reports of familial Sneddon syndrome
suggest an autosomal dominant pattern of inheritance. It is not
currently known if all familial cases are due to changes in CECR1.
Currently there is a research study titled, Genetics, Pathophysiology, and Treatment of Recessive Autoinflammatory Diseases, which is studying the effects of CECR1 gene mutations. The study lead is Dr. Daniel Kastner of the National Human Genome Research Institute. Click on the study title to learn more.
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.
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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I would like to know if you have this what is the usual life span. Also how does one develop this? Is it hereditary or what? See answer