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Micro syndrome

Orpha number ORPHA2510
Synonym(s) WARBM
Warburg micro syndrome
Prevalence Unknown
Inheritance
  • Autosomal recessive
Age of onset Childhood
ICD-10
  • Q87.0
OMIM
UMLS -
MeSH -
MedDRA -
SNOMED CT -

Summary

Micro syndrome is an autosomal recessive disorder caracterised by ocular and neurodevelopmental defects and by microgenitalia. It presents with severe intellectual disability, microcephaly, congenital cataract, microcornea, microphthalmia, agenesis/hypoplasia of the corpus callosum, and hypogenitalism. Since its initial description, 26 cases of Micro syndrome have been reported in the literature. With exception of the ophthalmologic features, the clinical and dysmorphic findings are either unapparent or subtle in the early postnatal period. Mutations in RAB3GAP, a gene showing linkage to a region of homozygosity at 2q21.3, have been identified in some families. The RAB3GAP gene encodes a member of the Rab3 protein family, which is involved in regulated exocytosis of neurotransmitters and hormones. It has been suggested that the hypogenitalism is hypothalamic in origin, and that the ocular and neurodevelopmental defects result from abnormal neurotransmitter vesicular transport and exocytosis. Ocular findings are the most reliable diagnostic signs of Micro syndrome, especially during infancy. Pathognomonic ophthalmologic findings include microphthalmia, microcornea, cataract, atonic pupils, mild optic atrophy, and severe cortical vision impairment. Micro syndrome should be considered in any infant with congenital cataract. There is no specific treatment for Micro syndrome and the management is symptomatic. The conventional approach used for congenital cataract should be recommended.

Expert reviewer(s)

  • Dr Pinar I. AGRAS
  • Dr Murat DERBENT

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Detailed information

Review article
  • EN (2006,pdf)
Clinical genetics review
  • EN (2006)
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