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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
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Your Question

Do you have information about Fine-Lubinsky syndrome? My son's doctor suggested that this may be the cause of his poor vision and hearing.

Our Answer

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What is Fine-Lubinsky syndrome?

Fine-Lubinsky syndrome (FLS) is a very rare syndrome that affects various parts of the body. Signs and symptoms can vary and may include brachycephaly or plagiocephaly; structural brain abnormalities; abnormal EEG; intellectual disability; deafness; eye conditions (cataracts or glaucoma); distinctive facial features; and body asymmetry. The underlying cause of FLS remains unknown. Almost all cases have been sporadic (occurring in people with no family history of FLS) with the exception of 2 affected siblings, suggesting it was inherited in an autosomal recessive manner.[1][2][3]
Last updated: 6/23/2015

What are the signs and symptoms of Fine-Lubinsky syndrome?

The signs and symptoms known to occur in people with Fine-Lubinsky syndrome (FLS) are based on reports of the few people who have been diagnosed and described in the medical literature. Numerous features have been reported and many of them vary among affected people. The key signs for diagnosis may include:
  • non-synostotic brachycephaly or plagiocephaly (a deformity of the skull that is not due to bone fusion)
  • structural brain anomalies
  • abnormal electroencephalogram (EEG)
  • intellectual disability
  • deafness
  • ocular (eye) abnormalities (cataracts or glaucoma)
  • distinctive facial features (including a high/wide forehead; shallow eye orbits; a flat/round face; low-set, posteriorly-rotated ears; and an abnormally small mouth)
  • body asymmetry, which may be present at birth (congenital)[3]
Last updated: 6/23/2015

What causes Fine-Lubinsky syndrome?

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.[4][3]
Last updated: 6/23/2015

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.[5][3] Additional reports are needed to identify a possible genetic cause for the condition.[3] 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.[3]
Last updated: 6/23/2015

How is Fine-Lubinsky syndrome diagnosed?

In 2009, Corona-Rivera et. al reviewed the signs and symptoms reported in people diagnosed with Fine-Lubinsky syndrome (FLS). They identified key signs for diagnosis as: non-synostotic (without synostosis) brachycephaly (short or broad head) or plagiocephaly (flattening of the head); structural brain anomalies; abnormal EEG; intellectual disability; deafness; ocular (eye) abnormalities including cataracts or glaucoma; distinctive facial features involving high/wide forehead, shallow orbits, flat/round face, low-set posteriorly rotated ears, and microstomia (small mouth); and body asymmetry.[6]
Last updated: 6/23/2015

References
  • Fine-Lubinsky syndrome. Orphanet. September 2007; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1272. Accessed 4/27/2011.
  • Robert J. Gorlin, Meyer Michael Cohen, Raoul C. M. Hennekam. Syndromes of the Head and Neck, Fourth Edition. US: Oxford University Press; 2001;
  • Corona-Rivera JR et. al. Further clinical delineation of Fine-Lubinsky syndrome. Am J Med Genet A. May, 2009; 149A(5):1070-1075.
  • 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.
  • 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.
  • Marla J. F. O'Neill et al. BRACHYCEPHALY, DEAFNESS, CATARACT, MICROSTOMIA, AND MENTAL RETARDATION. OMIM. October 30, 2009; http://www.ncbi.nlm.nih.gov/omim/601353. Accessed 4/27/2011.
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.