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Ogden syndrome
Disease 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.
ORPHA:276432
Classification level: Disorder- Synonym(s):
- Premature aging appearance-developmental delay-cardiac arrhythmia syndrome
- Prevalence: <1 / 1 000 000
- Inheritance: X-linked recessive or X-linked dominant
- Age of onset: Infancy, Neonatal
- ICD-10: E34.8
- OMIM: 300855
- UMLS: -
- MeSH: -
- GARD: -
- MedDRA: -
A summary on this disease is available in Español (2018) Français (2018) Italiano (2018) Nederlands (2018)
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