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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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Inheritance

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How is Fine-Lubinsky syndrome inherited?

At first, all of the individuals who were reported with features suggestive of Fine–Lubinsky syndrome were the only affected individuals in their families. Although a variety of inheritance patterns could be proposed for this disorder, the identification of a brother and sister with unaffected parents suggests a possible autosomal recessive inheritance pattern with a 25% recurrence risk to future siblings. While autosomal dominant inheritance with germ-line mosaicism in a parent cannot be excluded in this case, it is recommended that parents of children with Fine–Lubinsky syndrome be aware of the recurrence risk associated with possible autosomal recessive inheritance.[1]
Last updated: 6/14/2011

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.


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.