Ogden Syndrome

What is Ogden syndrome?

Ogden syndrome, also known as n-terminal acetyltransferase deficiency, is a rare, X-linked neurodevelopmental disorder characterized by developmental delay, dysmorphic features, and hypotonia. It is very rare, with around 20 cases being reported in medical literature. 

What are the symptoms of Ogden syndrome?

Medical professionals are still learning more about this syndrome, but they have compiled a list of symptoms. They include developmental delay, failure to thrive, cardiac arrhythmias, hypotonia, and dysmorphic impairments. 

Recent case studies have shown that additional neurological symptoms may be associated with this condition, but more research needs to be done. 

What causes Ogden syndrome?

Mutations in the NAA10 gene cause this condition. It is X-linked, and can be inherited in an X-linked recessive or X-linked dominant pattern. 

How is Ogden syndrome diagnosed?

Doctors will look for the characteristic symptoms, but the only way to confirm a diagnosis is with whole exome sequencing. 

What are the treatments for Ogden syndrome?

There is no cure or treatment specific to this condition. All treatment is symptomatic. 

Where can I find out more about Ogden syndrome?

• • • Pediatric Neurology
    • Malacards
    • OMIM