Miller–Dieker syndrome

Miller–Dieker syndrome
Miller–Dieker syndrome
Classification and external resources
ICD-9 758.33
OMIM 247200
DiseasesDB 29494
MeSH D054221

Miller–Dieker syndrome (MDS), also called Miller–Dieker lissencephaly syndrome (MDLS) and chromosome 17p13.3 deletion syndrome, is an autosomal dominant[1] congenital disorder characterized by a developmental defect of the brain, caused by incomplete neuronal migration.

This syndrome should not be confused with Miller syndrome - an unrelated rare genetic disorder - or Miller Fisher syndrome - a form of Guillain-Barré syndrome.



The brain is smooth (also known as lissencephaly), has an absence of sulci and gyri, has a cerebral cortex 4 layers thick instead of 6 and shows microcephaly. There is a characteristic facial appearance, delayed growth and mental development, and multiple abnormalities of the brain, heart, kidney and gastrointestinal tract.

Failure to thrive, feeding difficulties, seizures and decreased spontaneous activity are often seen, and death tends to occur in infancy and childhood.

==Cause and Genetic has an autosomal dominant pattern of inheritance.]] Originally thought to be an [[a The disorder arises from the deletion of part of 17p (which includes both the LIS1 and 14-3-3 epsilon gene), leading to partial monosomy. There may be unbalanced translocations (ie 17q:17p or 12q:17p), or the presence of a ring chromosome 17.

Although an autosomal dominant disorder,[1] Miller-Dieker syndrome is not easily inherited due to the fact that those afflicted do not always live beyond childho050093}}</ref> They therefore could not pass the gene to the next generation.


The disease may be diagnosed by cytogenetic techniques, testing for a microdeletion at LIS1.[2]


It is named for James Q. Miller[3] and H. Dieker.[4]


  1. ^ a b Online 'Mendelian Inheritance in Man' (OMIM) 247200
  2. ^ Izumi K, Kuratsuji G, Ikeda K, Takahashi T, Kosaki K (2007). "Partial deletion of LIS1: a pitfall in molecular diagnosis of Miller-Dieker syndrome". Pediatr. Neurol. 36 (4): 258–60. doi:10.1016/j.pediatrneurol.2006.11.015. PMID 17437911. 
  3. ^ Miller JQ (1963). "Lissencephaly in 2 siblings". Neurology 13: 841–50. PMID 14066999. 
  4. ^ Dieker, H.; Edwards, R. H.; ZuRhein, G. et al. The lissencephaly syndrome.In: Bergsma, D. : The Clinical Delineation of Birth Defects: Malformation Syndromes. New York: National Foundation-March of Dimes (pub.) II 1969. Pp. 53-64.

External links

  • [1] Miller–Dieker

Wikimedia Foundation. 2010.

Look at other dictionaries:

  • Miller-Dieker syndrome — Infobox Disease Name = PAGENAME Caption = DiseasesDB = 29494 ICD10 = ICD9 = ICD9|758.33 ICDO = OMIM = 247200 MedlinePlus = eMedicineSubj = eMedicineTopic = MeshID = D054221Miller Dieker syndrome is a disease characterised by a developmental… …   Wikipedia

  • Miller-Dieker syndrome — Mil·ler Diek·er syndrome (milґər deґkər) [James Quinter Miller, American neurologist, born 1926; H. Dieker, American physician, 20th century] see under syndrome …   Medical dictionary

  • Miller-Dieker syndrome — an autosomal recessive syndrome characterized by lissencephaly, microcephaly, mental retardation, dysmorphic facial appearance, and sometimes polydactyly, cryptorchidism, heart lesions, kidney defects, and defects of the gastrointestinal system.… …   Medical dictionary

  • Syndrome de miller-dieker — Le syndrome de Miller Dieker est une lissencéphalie grave aboutissant souvent au décès de l’enfant avant deux ans. Sommaire 1 Autres noms de la maladie 2 Etiologie 3 Incidence 4 Desc …   Wikipédia en Français

  • Syndrome de Miller-Dieker — Le syndrome de Miller Dieker est une lissencéphalie grave aboutissant souvent au décès de l’enfant avant deux ans. Sommaire 1 Autres noms de la maladie 2 Etiologie 3 Incidence 4 Description …   Wikipédia en Français

  • Miller-Dieker-Syndrom — In diesem Artikel oder Abschnitt fehlen folgende wichtige Informationen: Bei den weitaus meisten Tierarten ist Lissenzephalie der normale Zustand, auch dort wird der Begriff verwendet Gancho Kolloquium Du kannst Wikipedia helfen, indem du sie… …   Deutsch Wikipedia

  • Síndrome de Miller-Dieker — Cerebro con lisencefalia. Clasificación y recursos externos CIE 9 …   Wikipedia Español

  • Down syndrome — Classification and external resources Boy with Down syndrome assembling a …   Wikipedia

  • DiGeorge syndrome — 22q11.2 deletion syndrome Classification and external resources Brain computer tomography cuts of t …   Wikipedia

  • XYY syndrome — Not to be confused with XXY (2 X s, Klinefelter s syndrome). XYY syndrome Classification and external resources Y chromosome ICD 10 Q …   Wikipedia

Share the article and excerpts

Direct link
Do a right-click on the link above
and select “Copy Link”

We are using cookies for the best presentation of our site. Continuing to use this site, you agree with this.