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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Fine-Lubinsky syndrome


Other Names for this Disease

  • Brachycephaly, deafness, cataract and mental retardation
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Cause

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What causes Fine-Lubinsky syndrome?

The cause of Fine-Lubinsky syndrome remains unknown, with the exception of one family report containing an affected brother and sister, suggesting an autosomal recessive inheritance pattern. In all other individuals reported, it appeared to be sporadic (occurring in individuals with no history of the condition in the family), with the affected individuals being born from healthy parents, without any evidence of teratogenic exposures or consanguinity (parents being related). However, additional reports are needed to identify a possible genetic cause of this rare condition. Although karyotypes (a type of chromosome test) were reportedly normal in affected individuals, a submicrocopic chromosomal rearrangement (an abnormality too small to be detected on karyotype) as a cause for the syndrome has not been ruled out.[1]
Last updated: 6/9/2011

References
  1. Takaya Nakane, Naoki Mizobe, Hidemasa Hayashibe and Shinpei Nakazawa. A variant of Fine-Lubinsky syndrome: a Japanese boy with profound deafness, cataracts, mental retardation, and brachycephaly without craniosynostosis. Clinical Dysmorphology. 2002; 11:195-198.


Other Names for this Disease
  • Brachycephaly, deafness, cataract and mental retardation
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.