Holoprosencephaly

Synonyms

Alobar Holoprosencephalies

Alobar Holoprosencephaly

Arhinencephalies

Arhinencephaly

Holoprosencephalies

Holoprosencephalies, Alobar

Holoprosencephalies, Lobar

Holoprosencephalies, Semilobar

Holoprosencephaly, Alobar

Holoprosencephaly, Familial Alobar

Holoprosencephaly, Lobar

Holoprosencephaly, Semilobar

Lobar Holoprosencephalies

Lobar Holoprosencephaly

Semilobar Holoprosencephalies

Semilobar Holoprosencephaly

Anterior midline brain, cranial, and facial malformations resulting from the failure of the embryonic prosencephalon to undergo segmentation and cleavage. Alobar prosencephaly is the most severe form and features anophthalmia; cyclopia; severe INTELLECTUAL DISABILITY; CLEFT LIP; CLEFT PALATE; SEIZURES; and microcephaly. Semilobar holoprosencepaly is characterized by hypotelorism, microphthalmia, coloboma, nasal malformations, and variable degrees of INTELLECTUAL DISABILITY. Lobar holoprosencephaly is associated with mild (or absent) facial malformations and intellectual abilities that range from mild INTELLECTUAL DISABILITY to normal. Holoprosencephaly is associated with CHROMOSOME ABNORMALITIES.