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Fine-Lubinsky syndrome


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Other Names:
Brachycephaly, deafness, cataract and mental retardation
Categories:
Congenital and Genetic Diseases; Eye diseases; Nervous System Diseases

Summary Summary


Listen
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

Symptoms Symptoms


Listen
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

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Showing of 78 |
Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Flat face
Flat facial shape
0012368
Global developmental delay 0001263
Intellectual disability
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ]
0001249
Postnatal growth retardation
Growth delay as children
0008897
30%-79% of people have these symptoms
Arnold-Chiari type I malformation 0007099
Asymmetric crying face 0011333
Bilateral ptosis
Drooping of both upper eyelids
0001488
Brachycephaly
Short and broad skull
0000248
Camptodactyly
Permanent flexion of the finger or toe
0012385
Cerebral cortical atrophy
Decrease in size of the outer layer of the brain due to loss of brain cells
0002120
Cleft palate
Cleft roof of mouth
0000175
Clinodactyly of the 5th finger
Permanent curving of the pinkie finger
0004209
Cryptorchidism
Undescended testes
Undescended testis
[ more ]
0000028
Depressed nasal bridge
Depressed bridge of nose
Flat bridge of nose
Flat nasal bridge
Flat, nasal bridge
Flattened nasal bridge
Low nasal bridge
Low nasal root
[ more ]
0005280
Developmental cataract
Clouding of the lens of the eye at birth
0000519
Downslanted palpebral fissures
Downward slanting of the opening between the eyelids
0000494
EEG abnormality 0002353
High forehead 0000348
Hydrocephalus
Too much cerebrospinal fluid in the brain
0000238
Hypertelorism
Wide-set eyes
Widely spaced eyes
[ more ]
0000316
Infantile muscular hypotonia
Decreased muscle tone in infant
0008947
Large fontanelles
Wide fontanelles
0000239
Limitation of joint mobility
Decreased joint mobility
Decreased mobility of joints
Limited joint mobility
Limited joint motion
[ more ]
0001376
Long philtrum 0000343
Low-set ears
Low set ears
Lowset ears
[ more ]
0000369
Microtia
Underdeveloped ears
Small ears
[ more ]
0008551
Narrow mouth
Small mouth
0000160
Oligodontia
Failure of development of more than six teeth
0000677
Plagiocephaly
Flat head syndrome
Flattening of skull
Rhomboid shaped skull
[ more ]
0001357
Posteriorly rotated ears
Ears rotated toward back of head
0000358
Prominent metopic ridge 0005487
Rocker bottom foot
Rocker bottom feet
Rocker-bottom feet
Rockerbottom feet
[ more ]
0001838
Sensorineural hearing impairment 0000407
Shallow orbits
Decreased depth of eye sockets
Shallow eye sockets
[ more ]
0000586
Short nose
Decreased length of nose
Shortened nose
[ more ]
0003196
Short stature
Decreased body height
Small stature
[ more ]
0004322
Sparse scalp hair
Reduced/lack of hair on scalp
Scalp hair, thinning
Sparse, thin scalp hair
sparse-absent scalp hair
[ more ]
0002209
Tapered finger
Tapered fingertips
Tapering fingers
[ more ]
0001182
Thin upper lip vermilion
Thin upper lip
0000219
Upslanted palpebral fissure
Upward slanting of the opening between the eyelids
0000582
Ventriculomegaly 0002119
Visual impairment
Impaired vision
Loss of eyesight
Poor vision
[ more ]
0000505
5%-29% of people have these symptoms
Breast hypoplasia
Underdeveloped breasts
0003187
Congenital diaphragmatic hernia 0000776
Craniosynostosis 0001363
Delayed cranial suture closure 0000270
Febrile seizure (within the age range of 3 months to 6 years)
Fever induced seizures
0002373
Glaucoma 0000501
Hypoplasia of the corpus callosum
Underdevelopment of part of brain called corpus callosum
0002079
Inguinal hernia 0000023
J-shaped sella turcica 0002680
Long eyelashes
Increased length of eyelashes
Unusually long eyelashes
[ more ]
0000527
Megalocornea
Enlarged cornea
0000485
Patent ductus arteriosus 0001643
Pericardial effusion
Fluid around heart
0001698
Pericarditis
Swelling or irritation of membrane around heart
0001701
Proteinuria
High urine protein levels
Protein in urine
[ more ]
0000093
Radioulnar synostosis
Fused forearm bones
0002974
Reduced arm span 0012770
Scoliosis 0002650
Shawl scrotum
Scrotum surrounds penis
0000049
Stenosis of the external auditory canal
Narrowing of passageway from outer ear to middle ear
0000402
Supernumerary ribs
Extra ribs
0005815
Percent of people who have these symptoms is not available through HPO
Absent axillary hair 0002221
Autosomal recessive inheritance 0000007
Brachydactyly
Short fingers or toes
0001156
Cataract
Clouding of the lens of the eye
Cloudy lens
[ more ]
0000518
Cerebral atrophy
Degeneration of cerebrum
0002059
Finger clinodactyly 0040019
Generalized hypotonia
Decreased muscle tone
Low muscle tone
[ more ]
0001290
Growth delay
Delayed growth
Growth deficiency
Growth failure
Growth retardation
Poor growth
Retarded growth
[ more ]
0001510
Hearing impairment
Deafness
Hearing defect
[ more ]
0000365
Malar flattening
Zygomatic flattening
0000272
Pectus excavatum of inferior sternum 0000915
Scrotal hypoplasia
Smaller than typical growth of scrotum
0000046
Seizure 0001250
Sporadic
No previous family history
0003745
Superior pectus carinatum 0000917
Showing of 78 |
Do you have more information about symptoms of this disease? We want to hear from you.
Last updated: 1/1/2021
Do you have updated information on this disease? We want to hear from you.

Cause Cause


Listen
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

Inheritance Inheritance


Listen
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

Diagnosis Diagnosis


Listen
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

Prognosis Prognosis


Listen
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.[7]

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.[8]

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: 6/5/2016

Find a Specialist Find a Specialist


Listen

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

  • To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.

Organizations Organizations


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Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

  • Birth Defect Research for Children, Inc.
    976 Lake Baldwin Lane, Suite 104
    Orlando, FL 32814
    Telephone: +1-407-895-0802
    E-mail: staff@birthdefects.org
    Website: https://www.birthdefects.org/
  • Children's Craniofacial Association
    13140 Coit Road Suite 517
    Dallas, TX 75240
    Toll-free: 1-800-535-3643
    Telephone: +1-214-570-9099
    Fax: +1-214-570-8811
    E-mail: contactCCA@ccakids.com
    Website: https://ccakids.org/
  • FACES: The National Craniofacial Association
    PO Box 11082
    Chattanooga, TN 37401
    Toll-free: 800-332-2373
    Telephone: 423-266-1632
    E-mail: faces@faces-cranio.org
    Website: http://www.faces-cranio.org/
  • National Association of the Deaf
    8630 Fenton Street Suite 820
    Silver Spring, MD 20910
    Telephone: +1-301-587-1788
    TTY: +1-301-587-1789
    Fax: +1-301-587-1791
    E-mail: NADinfo@nad.org
    Website: https://www.nad.org/

Organizations Providing General Support

  • American Association on Intellectual and Developmental Disabilities
    501 3rd Street NW
    Suite 200
    Washington, DC 20001
    Toll-free: (800) 424-3688
    Telephone: (202) 387-1968
    Fax: (202) 387-2193
    Website: http://www.aaidd.org
  • The Society for Developmental and Behavioral Pediatrics
    6728 Old McLean Village Drive
    McLean, VA 22101
    Telephone: 703-556-9222
    E-mail: info@sdbp.org
    Website: http://www.sdbp.org/index.cfm
  • The Vision of Children Foundation (VOC)
    12555 High Bluff Drive, Suite 330
    San Diego, CA 92130
    Telephone: +1-858-314-7916
    E-mail: info@visionofchildren.org
    Website: https://www.visionofchildren.org/
Do you know of an organization? We want to hear from you.

Learn More Learn More


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These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

In-Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Fine-Lubinsky syndrome. Click on the link to view a sample search on this topic.

GARD Answers GARD Answers


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Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question

  • My 6 year old daughter was recently diagnosed with Fine-Lubinsky syndrome. I've been told that there are just a few others with this syndrome. Is there a way I can find out how the others with this syndrome are developing today? With my daughter only being 6 years old, I wonder what is in her future. See answer

  • 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. See answer


Have a question? Contact a GARD Information Specialist.

References References


  1. Fine-Lubinsky syndrome. Orphanet. September 2007; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1272. Accessed 4/27/2011.
  2. Robert J. Gorlin, Meyer Michael Cohen, Raoul C. M. Hennekam. Syndromes of the Head and Neck, Fourth Edition. US: Oxford University Press; 2001;
  3. Corona-Rivera JR et. al. Further clinical delineation of Fine-Lubinsky syndrome. Am J Med Genet A. May, 2009; 149A(5):1070-1075.
  4. 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.
  5. 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.
  6. 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.
  7. Ashley M. Holder, Brett H. Graham, Brendan Lee, and Daryl A. Scott. Fine–Lubinsky syndrome: Sibling pair suggests possible autosomal recessive inheritance. Am J Med Genet A. March 29, 2007; 143A(21):2576-2580. https://www.ncbi.nlm.nih.gov/pubmed/17394214.
  8. S. Ayme and N. Philip. Fine-Lubinsky syndrome: a fourth patient with brachycephaly, deafness, cataract, microstomia and mental retardation. Clinical Dysmorphology. 1996; 5:55-60. https://www.ncbi.nlm.nih.gov/pubmed/8867660.
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