Other Names for this Disease
- Brachycephaly, deafness, cataract and mental retardation
- Brachycephaly - deafness - cataract - intellectual disability
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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. Additional reports are needed to identify a possible genetic cause for the condition. 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.
Last updated: 6/23/2015
- 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.
- Corona-Rivera JR et. al. Further clinical delineation of Fine-Lubinsky syndrome. Am J Med Genet A. May, 2009; 149A(5):1070-1075.