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 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.
Last updated: 6/9/2011