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.

Contents

Characteristics

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.

Diagnosis

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

Eponym

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

References

  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

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Look at other dictionaries:

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