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Ogden syndrome
rareOgden 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.
- Identifiers
- MONDO:0010457 OMIM:300855Orphanet:276432
- Also known as
- Acetyl-CoA:arylamine n-acetyltransferase · arylamine n-acetyltransferase 1 · N acetyltransferase 1 deficiency · N acetyltransferase deficiency · N-terminal acetyltransferase deficiency
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