Microform holoprosencephaly
ORPHA:280200· ICD-10 Q04.2
Definition
A benign form of holoprosencephaly characterized by midline defects without the typical HPE defect in brain cleavage and which can variably manifest with microcephaly, hypotelorism, midline cleft lip and/or flat nose, choanal stenosis, pyriform sinus stenosis, coloboma as well as a single median maxillary incisor.
- Prevalence
- 1-9 / 100 000
- Inheritance
- Multigenic/multifactorial
- Age of onset
- Childhood, Infancy, Neonatal