Holzgreve syndrome
ORPHA:2167· ICD-10 Q87.8
Definition
Holzgreve syndrome is an extremely rare, lethal, multiple congenital anomalies/dysmorphic syndrome characterized by renal agenesis with Potter sequence, cleft lip/palate, oral synechiae, cardiac defects, and skeletal abnormalities including postaxial polydactyly. Intestinal nonfixation and intrauterine growth restriction are also associated. There have been no further descriptions in the literature since 1988.
- Prevalence
- <1 / 1 000 000
- Age of onset
- Antenatal, Neonatal