Rare Pulmonology News

Disease Profile

Fine-Lubinsky syndrome

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
<1 / 1 000 000

< 331

US Estimated

< 514

Europe Estimated

Age of onset

Infancy

ageofonset-infancy.svg

ICD-10

Q87.8

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

no.svg

Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

rnn-autosomalrecessive.svg

X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

no.svg

X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

no.svg

Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

no.svg

Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

no.svg

Not applicable

no.svg

Categories

Congenital and Genetic Diseases; Eye diseases; Nervous System Diseases

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. 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]

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)[3]

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.

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
Small ears
Underdeveloped 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

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); and body asymmetry.[6]

Organizations

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

    Organizations Providing General Support

      Learn more

      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.

        References

        1. Fine-Lubinsky syndrome. Orphanet. September 2007; https://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; https://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.

        Rare Pulmonology News