Мікроформа голопрозенцефалії
ORPHA:280200· ICD-10 Q04.2· Microform holoprosencephaly
Визначення(English summary)
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.
- Поширеність
- 1-9 / 100 000
- Успадкування
- Multigenic/multifactorial
- Вік початку
- Childhood, Infancy, Neonatal