Синдром Боуена-Конраді
ORPHA:1270· ICD-10 Q87.8· Bowen-Conradi syndrome
Визначення(English summary)
A rare developmental defect during embryogenesis characterized by moderate to severe prenatal and postnatal growth retardation, microcephaly, a distinctive facial appearance, profound psychomotor delay, hip and knee contractures and rockerbottom feet.
- Поширеність
- <1 / 1 000 000
- Успадкування
- Autosomal recessive
- Вік початку
- Antenatal, Neonatal