Other Names for this Disease
- Brachycephaly - deafness - cataract - intellectual disability
- Brachycephaly, deafness, cataract and mental retardation
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The cause of Fine-Lubinsky syndrome remains unknown. With the exception of one family report of an affected brother and sister (suggesting an autosomal recessive inheritance pattern), all other cases have been sporadic (occurring in people with no family history of FLS). Additional reports are needed to identify a possible genetic cause of FLS. While karyotypes (pictures of chromosomes) were reportedly normal in affected people, the presence of a very small chromosomal rearrangement (too small to detect with a karyotype) as a possible cause for FLS has not been ruled out.
Last updated: 6/23/2015
- 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.
- Corona-Rivera JR et. al. Further clinical delineation of Fine-Lubinsky syndrome. Am J Med Genet A. May, 2009; 149A(5):1070-1075.