Number of the records: 1  

holoprozencefália

  1. Record numberd016142
    Date06.06.2025
    TypeM - MESH
    Topical termholoprozencefália
    Other termEnglish (Pseudonym) Alobar Holoprosencephaly
    English (Pseudonym) Arhinencephaly
    English (Pseudonym) Lobar Holoprosencephaly
    English (Pseudonym) Semilobar Holoprosencephaly
    Slovak (Pseudonym) holoprozencefália alobárna
    Slovak (Pseudonym) arinencefália
    Slovak (Pseudonym) syndróm arinencefalický
    Slovak (Pseudonym) holoprozencefália lobárna
    Slovak (Pseudonym) holoprozencefália semilobárna
    UDCC05.660.207.410C10.500.034.875C16.131.077.410C16.131.260.380C16.131.621.207.410C16.131.666.034.875C16.320.180.380
    NoteAnterior 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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Number of the records: 1  

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