Monosomy 18p syndrome
ORPHA:1598· ICD-10 Q93.5
Definition
A rare deletion of all or part of the short arm of chromosome 18 characterized by a highly variable phenotype, most commonly including global developmental delay, short stature, and dysmorphic facial features.
- Prevalence
- 1-9 / 100 000
- Inheritance
- Autosomal dominant
- Age of onset
- Antenatal, Infancy, Neonatal