Синдром Огдена
ORPHA:276432· ICD-10 E34.8· Ogden syndrome
Визначення(English summary)
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.
- Поширеність
- <1 / 1 000 000
- Успадкування
- X-linked dominant, X-linked recessive
- Вік початку
- Infancy, Neonatal