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Jordan’s Syndrome

What is Jordan’s syndrome?

Jordan’s syndrome, also referred to as PPP2R5D-related intellectual disability, is a rare neurological disorder. It is characterized by intellectual disability and severe developmental delay. It is an extremely rare condition, only being described in twenty individuals in medical literature. 

What are the symptoms of Jordan’s syndrome?

Symptoms of Jordan’s syndrome include:

  • Intellectual disability
  • Hypotonia
  • Delayed development of motor skills (walking, sitting up, standing, etc.)
  • Delayed development of speech
  • Macrocephaly
  • Distinct facial features
    • Eyes that slant downwards
    • Prominent forehead
    • Widely spaced eyes

Seizures and autism spectrum disorder are possible symptoms of this condition as well. 

What causes Jordan’s syndrome?

The PPP2R5D gene is responsible for Jordan’s syndrome, and it is inherited in an autosomal dominant form if passed from parent to child. However, most cases are the result of sporadic mutations. The gene provides the instructions for the B56-delta protein, which is necessary to create the protein phosphatase 2A enzyme. This enzyme is necessary for dephosphorylation, and it is believed to play a role in the normal development and growth of the brain. More research is currently being conducted to better understand this condition.  

How is Jordan’s syndrome diagnosed?

Doctors will diagnose this condition after recognizing the characteristic symptoms and performing a clinical examination. Genetic testing will be necessary to confirm a diagnosis. 

What are the treatments for Jordan’s syndrome?

Treatment for Jordan’s syndrome is symptomatic. Research is still being conducted to better understand this condition. 

Where can I find out more about Jordan’s syndrome?

Jordan's Syndrome Articles