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Ogden syndrome

ORPHA:276432· ICD-10 E34.8

Definition

Ogden syndrome is a rare, genetic progeroid syndrome characterized by a variable phenotype including postnatal growth delay, severe global developmental delay, hypotonia, non-specific dysmorphic facies with aged appearance and cryptorchidism, as well as cardiac arrthymias and skeletal anomalies. Patients typically present with widely opened fontanels, mainly truncal hypotonia, a waddling gait with hypertonia of the extremities, small hands and feet, broad great toes, scoliosis and redundant skin with lack of subcutaneous fat.

Prevalence
<1 / 1 000 000
Inheritance
X-linked dominant, X-linked recessive
Age of onset
Infancy, Neonatal