FaCD Online Syndrome Fact Sheet

Last updated: 15 May 2009

Name: Miller-Dieker syndrome

Synonym: MDS, Miller-Dieker Lissencephaly syndrome, MLDS

Mode of Inheritance: usually sporadic (deletion)

OMIM number: 247200

Genes

cgd (17p13.3), mapped to 17p13.3

Tumor features (possible)

biliary tract cancer (incl. gallbladder)
leukemia, acute lymphoblastic (ALL)

Non-tumor features

developmental delay/mental deficiency/mental retardation
high forehead
lissencephaly
microcephaly
nose, short
seizures

Comment

This syndrome is characterized by incomplete development of the brain with associated lissencephaly. The skin of the forehead typically shows a vertical furrowing when crying.
A 15-month-old girl with Miller-Dieker syndrome and precursor B-cell acute lymphoblastic leukemia was reported[1]. Gallbladder cancer was reported in a 14-year-old male with the syndrome[2].

References

[1] Czuchlewski DR, Andrews J, Madden R, Clericuzio CL, Zhang QY. Acute lymphoblastic leukemia in a patient with Miller-Dieker syndrome. J Pediatr Hematol Oncol. 2008 Nov;30(11):865-8.
[2] Ueda S, Kubota M, Kuroki S, Wada M. Gallbladder cancer in a patient with Miller-Dieker syndrome.Acta Paediatr. 2006 Jan;95(1):113-4.