Fine-Lubinsky syndrome

Summary

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.

Cause

• 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.

Inheritance

Autosomal recessive inheritance, a 25% chance

• 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.

Signs and symptoms

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)

Diagnosis

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)
• Body asymmetry.

NIH genetic and rare disease info

• NIH info on Fine-Lubinsky syndrome

Fine-Lubinsky syndrome is a rare disease.

Resources

Frequently asked questions

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