Hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome
ORPHA:2180· ICD-10 Q87.8
Definition
A rare multiple congenital anomalies syndrome characterized principally by Sprengel anomaly (upward displacement of the scapula) and hydrocephaly. Other anomalies such as global developmental delay, psychosis, brachydactyly, and costovertebral dysplasia may also be present.
- Prevalence
- <1 / 1 000 000
- Inheritance
- Unknown
- Age of onset
- Neonatal