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Diseases

Genetic and Rare Diseases Information Center (GARD)

Fine-Lubinsky syndrome


Other Names for this Disease
  • Brachycephaly - deafness - cataract - intellectual disability
  • Brachycephaly, deafness, cataract and mental retardation
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Inheritance

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How is Fine-Lubinsky syndrome inherited?

Almost all people reported to have Fine–Lubinsky syndrome (FLS) have been the only affected people in their families (these cases were sporadic). There has been one report of an affected brother and sister with unaffected parents, suggesting autosomal recessive inheritance.[1][2] Additional reports are needed to identify a possible genetic cause for the condition.[2] Parents of a child with FLS should be aware that if the condition is inherited in an autosomal recessive manner, each of their children has a 25% (1 in 4) risk to be affected. Although karyotypes (pictures of chromosomes) have been reported as normal in affected people, the presence of a very small chromosomal rearrangement has not been excluded as a possible cause of FLS.[2]
Last updated: 6/23/2015

References
  1. Ashley M. Holder, Brett H. Graham, Brendan Lee and Daryl A. Scott. Fine–Lubinsky Syndrome: Sibling Pair Suggests Possible Autosomal Recessive Inheritance. American Journal of Medical Genetics Part A. 2007; 143A:2576-2580.
  2. Corona-Rivera JR et. al. Further clinical delineation of Fine-Lubinsky syndrome. Am J Med Genet A. May, 2009; 149A(5):1070-1075.


Other Names for this Disease
  • Brachycephaly - deafness - cataract - intellectual disability
  • 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.