Gamuts

Holoprosencephaly

Holoprosencephaly (HPE) is a cephalic disorder in which the prosencephalon (the forebrain of the embryo) fails to develop into two hemispheres. Normally, the forebrain is formed and the face begins to develop in the fifth and sixth weeks of human pregnancy. [Source: Wikipedia ]

Synonyms
Arrhinencephaly
HPE
OrphaNet reference
Holoprosencephaly 
Is A
Forebrain hypoplasia
Subtypes
Alobar holoprosencephaly
Lobar holoprosencephaly
Semilobar holoprosencephaly
May Cause
Abnormal configuration of cerebral ventricles
Abnormal septum pellucidum
Ambiguous genitalia
Anophthalmia
Cebocephaly
Choanal atresia
Choanal stenosis
Cleft lip/palate
Coloboma
Congenital brain malformation
Congenital premature craniosynostosis
Facial hypoplasia
Hydrocephalus
Hydrops fetalis
Hypotelorism
Intracranial lesion in an infant
Malformed orbit
Microcephaly
Microphthalmia
Midline cystic mass in fetal brain
Neuronal migration disorder
Radial ray hypoplasia
Retinopathy
Single maxillary central incisor
Trigonocephaly
May Be Caused by
Agnathia - holoprosencephaly - situs inversus
Genoa syndrome
Holoprosencephaly - craniosynostosis
Holoprosencephaly - radial heart renal anomalies
Steinfeld syndrome

Copyright © 2022, Charles E. Kahn, Jr., MD, MS
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