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K. Godai

Miller-Dieker syndrome

Miller-Dieker syndrome

Schlüsselwörter Miller-Dieker syndrome; ICD 10: Q93.88¸17p13.3 deletion syndrome
Keywords Miller-Dieker syndrome; ICD 10: Q93.88¸17p13.3 deletion syndrome
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Miller–Dieker syndrome (MDS) is a rare disorder that is characterized by type I lissencephaly (smooth brain), facial dysmorphism, and often other congenital abnormalities. MDS is caused by visible deletion or microdeletion of 17p13.3 with haploinsufficiency of LIS1.

Typical facial features include a prominent forehead, bitemporal hollowing, short nose with upturned nares, prominent upper lip with downturned vermillion border, low-set posteriorly rotated ears, and micrognathia. Most patients with MDS are suffered from epilepsy and severe developmental delay. Congenital heart diseases are frequently associated with MDS. Kidney anomalies, sacral dimple, omphalocele, genital anomalies, and clinodactyly are also associated with MDS.


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