Jordan's syndrome
A rare neurodevelopmental disorder from PPP2R5D mutations.
Last updated
Jordan's syndrome (JS) is a rare neurodevelopmental disorder inherited in an autosomal dominant pattern. It is caused by de novo mutations in the PPP2R5D gene, which encodes a subunit of protein phosphatase type 2A (PP2A). Children with JS may also have epilepsy or meet diagnostic criteria for autism spectrum disorder.
Signs and symptoms
Jordan's syndrome first shows signs in early childhood, with developmental and intellectual delays that can be mild or severe. Speech is almost always affected. Because many symptoms overlap with autism spectrum disorder, some patients meet its diagnostic criteria. Early physical signs may include a large head, low muscle tone, seizures, eye problems, and distinct facial features.
Brain scans can show an enlarged brain or issues with the ventricles or white matter. Other possible problems involve the skeleton, heart, hormones, or genitals. In certain genetic forms, parkinsonism can develop between the ages of 20 and 40.
Did You Know?
- PP2A dysfunction is associated with Alzheimer's disease, Parkinson's disease, and cancer.
- Studies of the E420K variant have implicated PI3K/AKT/mTOR pathway dysregulation in JS pathogenesis.
Frequently Asked Questions
What causes Jordan's syndrome?
Listed causes of Jordan's syndrome include Heterozygous PPP2R5D mutation.
How is Jordan's syndrome diagnosed?
Diagnosis of Jordan's syndrome is based on molecular genetic testing.
More in Neurological Disorders in Children
Sources
Compiled from Wikipedia and the sources listed below. Text from Wikipedia is available under CC BY-SA 4.0; this entry is adapted from it.
- Wikipedia: Jordan's syndrome (CC BY-SA 4.0).
- Word definitions: the , each quoted from its Wikipedia article.
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