Аутосомно-рецесивний спондилокостальний дизостоз
ORPHA:2311· ICD-10 Q76.8· Autosomal recessive spondylocostal dysostosis
Визначення(English summary)
A rare condition of variable severity associated with vertebral and rib segmentation defects and characterised by a short neck with limited mobility, winged scapulae, a short trunk, and short stature with multiple vertebral anomalies at all levels of the spine.
- Поширеність
- Unknown
- Успадкування
- Autosomal recessive
- Вік початку
- Antenatal, Neonatal