Diseases

Xk Aprosencephaly

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Aprosencephaly/atelencephaly (ap/at) refers to a rare forebrain malformation defined by a lack of prosencephalic derivates. In aprosencephaly the prosencephalon is absent, while in atelencephaly it exists as a rudimentary medial vesicle resembling the diencephalon but without the lateral telencephalic vesicles.

SYMPTOMS

Aplasia/hypoplasia affecting the eye, microcephaly, narrow mouth, abnormality of the gastrointestinal tract, abnormality of the genital system, abnormality of the pharynx, absent nares, aplasia/hypoplasia of the radius, atria septal defect, hypotelorism, polyhydramnios, ventricular septal defect, anencephaly, aprosencephaly, autosomal recessive inheritance, hand oligodactyly