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Miller-Dieker syndrome

Orpha number ORPHA531
Synonym(s) Lissencephaly due to 17p13.3 deletion
Monosomy 17p13.3
Telomeric deletion 17p
Prevalence Unknown
Inheritance Autosomal dominant
Age of onset Infancy
Neonatal
ICD-10
  • Q04.3
ICD-O -
OMIM
UMLS
  • C0265219
MeSH
  • D054221
MedDRA
  • 10068361
SNOMED CT
  • 253148005

Summary

Miller-Dieker Syndrome (MDS) is a contiguous gene deletion syndrome of chromosome 17p13.3, characterised by classical lissencephaly (lissencephaly type 1) and distinct facial features. Additional congenital malformations can be part of the condition. MDS is undoubtedly a rare condition with a reported estimate of 1 cases per 100 000 live births, although incidence and prevalence are probably higher. Children with MDS present with severe developmental delay, usually have epilepsy, and feeding problems are common. The lissencephaly represents the severe end of the spectrum with generalized agyria, or agyria and some frontal pachygyria. Visible and submicroscopic deletions of 17p13.3, including the LIS1 gene, are found in almost 100% of patients. Management of children with MDS is symptomatic. To avoid the complications of feeding and swallowing problems (poor nutritional state, aspiration pneumonia), nasogastric tubes and gastrostomies (a more long-term solution) can be utilised. Seizure control is important.

Expert reviewer(s)

  • Pr Daniela PILZ

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Detailed information

Summary information
Clinical genetics review
  • EN (2014)
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