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holoprozencefália

  1. Subject h.holoprozencefália
    Subject h.Holoprosencephaly
    Entry termsholoprozencefália alobárna
    arinencefália
    syndróm arinencefalický
    holoprozencefália lobárna
    holoprozencefália semilobárna
    English X referencesAlobar Holoprosencephaly
    Arhinencephaly
    Lobar Holoprosencephaly
    Semilobar Holoprosencephaly
    Scope note in EnglishAnterior 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.
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