Semilobar holoprosencephaly
ORPHA:220386· ICD-10 Q04.2
Definition
A form of holoprosencephaly characterized by fusion of the left and right frontal and parietal lobes with only a posterior interhemispheric fissure. Craniofacial features variably include ocular hypotelorism, midline cleft lip (complete or partial) and a flat nose.
- Prevalence
- 1-9 / 100 000
- Inheritance
- Multigenic/multifactorial, Not applicable
- Age of onset
- Infancy, Neonatal