Ogden syndrome

Ogden syndrome is a rare genetic disorder that has features of premature aging and developmental challenges. People with this condition experience postnatal growth delay, severe global developmental delay, and hypotonia. They may also have a distinctive aged appearance with non-specific dysmorphic facial features and often present with an open skull (widely opened fontanels) during infancy. Additionally, features such as small hands and feet, broad great toes, and redundant skin with a lack of subcutaneous fat are noted. The syndrome also shows a variety of neurological and skeletal features including a waddling gait with hypertonia of the limbs, scoliosis, and cardiac arrhythmias. Other clinical findings may include cryptorchidism and other skeletal anomalies. Overall, the condition presents a spectrum of features that can differ in severity among those affected.

Common symptoms and signs include postnatal growth delay, severe global developmental delay, and low muscle tone (hypotonia). Other reported symptoms are an aged appearance, open fontanels, small hands and feet with broad great toes, and skeletal anomalies such as scoliosis. In addition, cardiac arrhythmias and neurological issues like a waddling gait with areas of increased muscle tone may be present.

Ogden syndrome is caused by genetic changes, and it has been linked to the NAA10 gene. This gene is important for certain cellular processes and its change leads to the wide range of symptoms seen in this condition. The syndrome is recognized as a genetic condition with mentioned associations of X-linked inheritance patterns.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about current research and future directions is currently limited for this condition.