Fine-Lubinsky syndrome

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.

Last updated on 05-01-20

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.

Last updated on 05-01-20

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. 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.

Last updated on 05-01-20

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.

Last updated on 05-01-20

What is the long-term outlook for people with Fine-Lubinsky syndrome?

Due to the rarity of Fine-Lubinsky syndrome (FLS) and the few available reports in the medical literature, the long-term outlook for people with FLS is not well known. People diagnosed with FLS have a variety of signs and symptoms, so the prognosis likely varies depending on the specific symptoms present and the severity in each person.

To our knowledge, the vast majority of reports describe young children less than 2 years of age. However, there is a report of a male with features suggestive of FLS last examined at age 11 (in 1997), and a report of a female last examined at age 20.

The 11 year old male had a long history of dental problems and failed multiple hearing screens throughout childhood, yet a reevaluation at age 9 suggested his hearing was in the normal range. At 11 years old, he had short stature, a small head (microcephaly), and various craniofacial and skeletal findings. He reportedly attended special education classes at the elementary school level. He was able to speak in full sentences and follow multiple-step commands, but his speech was sometimes unintelligible to non-family members.

The 20 year old female was first seen at 6 months of age and then again at 7.5 years of age. By her 2nd visit her facial features had reportedly changed and had become asymmetric. She had various features including skeletal abnormalities, a history of a cataract and severe deafness, and dental abnormalities. At age 14 she had 22 teeth, was short, and her developmental delay was more obvious. She could read and write but was unable to attend a normal school and her behavior was reportedly immature. At age 20, her distinctive facial features were unchanged, and she had underdeveloped and low-set breasts. She could read and write phonetically but could not understand grammar.

We are not aware of additional reports in the literature that describe people with FLS later in adulthood; therefore, we do not have information about whether affected people are at risk for new health problems as they age or what the life expectancy might be.

Last updated on 05-01-20

Name: Birth Defect Research for Children, Inc. 976 Lake Baldwin Lane, Suite 104
Orlando, FL, 32814, United States
Phone: +1-407-895-0802 Email: staff@birthdefects.org Url: https://www.birthdefects.org/
Name: American Association on Intellectual and Developmental Disabilities 501 3rd Street NW Suite 200
Washington, DC, 20001, United States
Phone: (202) 387-1968 Toll Free: (800) 424-3688 Fax : (202) 387-2193 Url: http://www.aaidd.org
Name: National Association of the Deaf 8630 Fenton Street Suite 820
Silver Spring, MD, 20910 , United States
Phone: +1-301-587-1788 TTY: +1-301-587-1789 Fax : +1-301-587-1791 Email: NADinfo@nad.org Url: https://www.nad.org/
Name: FACES: The National Craniofacial Association PO Box 11082
Chattanooga, TN, 37401, United States
Phone: 423-266-1632 Toll Free: 800-332-2373 Email: faces@faces-cranio.org Url: http://www.faces-cranio.org/
Name: Children's Craniofacial Association 13140 Coit Road Suite 517
Dallas, TX, 75240 , United States
Phone: +1-214-570-9099 Toll Free: 1-800-535-3643 Fax : +1-214-570-8811 Email: contactCCA@ccakids.com Url: https://ccakids.org/
Name: Developmental Delay Resources (DDR) 5801 Beacon Street
Pittsburgh, PA, 15217, United States
Toll Free: 800-497-0944 Fax : 412-422-1374 Email: devdelay@mindspring.com Url: http://www.devdelay.org
Name: Vision of Children Foundation (VOC) 12671 High Bluff Drive, Suite 300
San Diego, CA, 92130 , United States
Phone: 858-799-0810 Fax : 858-794-2348 Email: cdenofrio@visionofchildren.org Url: http://www.visionofchildren.org
Name: The Society for Developmental and Behavioral Pediatrics 6728 Old McLean Village Drive
McLean, VA, 22101, United States
Phone: 703-556-9222 Email: info@sdbp.org Url: http://www.sdbp.org/index.cfm

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