Ogden syndrome

MONDO:0010457

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.

Also known as: N-terminal acetyltransferase deficiency, OGDNS, Ogden syndrome, Ogden syndrome, X-linked recessive, X-linked dominant, premature ageing appearance-developmental delay-cardiac arrhythmia syndrome, premature aging appearance-developmental delay-cardiac arrhythmia syndrome, Acetyl-CoA:arylamine n-acetyltransferase, N acetyltransferase 1 deficiency

0 clinical trials for this condition and its sub-types, 0 tagged with Ogden syndrome itself.

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