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Microform holoprosencephaly is a benign form of holoprosencephaly (HPE; see this term) characterized by midline defects without the typical HPE defect in brain cleavage.
ORPHA:280200Classification level: Disorder
More than 25% of HPE patients have a microform.
Features observed in microforms consist of microcephaly, hypotelorism, midline cleft lip and/or flat nose, choanal stenosis, pyriform sinus stenosis as well as a single median maxillary incisor (see this term). Cases are usually identified in relatives of patients with clinically significant forms of HPE. Significant clinical variability and genetic complexity underlie HPE.