holoprosencephaly 3

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holoprosencephaly 32016-12-03T06:24:13+00:00

holoprosencephaly 3 

EMBRYOLOGY, GENETICS

Definition A usually sporadic, rarely, autosomal dominant form (OMIM:142945) of holoprosencephaly*.

*Holoprosencephaly is a structural anomaly of the brain, in which the developing forebrain fails to correctly separate into right and left hemispheres. It is genetically and phenotypically variable and is characterised by distinct facies. 

Molecular pathology Defects in SHH, which encodes Sonic Hedgehog, a protein central to early embryonic patterning for the anterior-posterior limb axis, ventral somites and ventral neural tube, cause holoprosencephaly type 3.

References http://www.uniprot.org/uniprot/Q15465#section_comments

http://www.omim.org/entry/142945

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