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About: XK aprosencephaly     Goto   Sponge   NotDistinct   Permalink

An Entity of Type : dbo:Disease, within Data Space : dbpedia.org associated with source document(s)

Type: ThingDiseasedisease New Facet based on Instances of this Class

XK aprosencephaly (also called Garcia-Lurie syndrome, aprosencephaly, and aprosencephaly-atelencephaly syndrome) is an extremely rare congenital disorder characterized by the absence of the embryonic forebrain. Because the prosencephalon gives way to the cerebral cortex, survival with aprosencephaly is not possible outside utero. The external symptoms are similar to holoprosencephaly, a related disorder, including a smaller than normal head (microcephaly), small eyeballs (microphthalmia), a small mouth (microstomia), anal atresia (no anus), and abnormalities of the external genitalia, radius, nostrils, and pharynx (throat).