The Miller-Dieker Syndrome (MDS) is one of the syndromes associated with lissencephaly. It is associated with a number of physical findings.


Genetic basis: defect at 17p13.3 (deletion, ring chromosome, unbalanced translocation), with loss of LIS1 and other genes


Common clinical features:

(1) prominent forehead with vertical soft tissue ridging

(2) bitemporal hollowing

(3) short nose with upturned nares

(4) flattening of the midface

(5) protuberant upper lip with thin vermillion border

(6) small jaw

(7) microcephaly

(8) failure to thrive

(9) feeding problems

(10) mental deficiency

(11) seizures


A variety of other malformations affecting the heart, kidney, genital, eye and other systems may be present.


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