Ogden syndrom
Engelsk navn: Ogden syndrome
Engelske synonym: Premature aging appearance-developmental delay-cardiac arrhythmia syndrome
Definisjon
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.
Fra Orphanet
ORPHA: 276432
Klassifiseringsnivå: Disorder
ICD-10: E34.8
Mer informasjon
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