Microform holoprosencephaly

Orpha code: 280200OMIM code: 610829

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.

Disease data
Classification

Malformation syndrome

Synonyms
HPE, minor form
HPE-L
HPE typu mikroform
HPE-L
Holoprosencephaly, minor form
Holoprosencephaly-like
Microform HPE
ORPHA code
280200
OMIM code
610829
ICD10 code
Q04.2
ICD11 code
LA05.2

No additional description.

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