Fine-Lubinsky Syndrome

Fine-Lubinsky Syndrome

Article
Ear, Nose, & Throat (ENT)
Brain & Nerve
+6
Contributed byKrish Tangella MD, MBAApr 17, 2018

What are the other Names for this Condition? (Also known as/Synonyms)

  • Brachycephaly, Deafness, Cataract and Mental Retardation
  • FLS (Fine-Lubinsky Syndrome)

What is Fine-Lubinsky Syndrome? (Definition/Background Information)

  • 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

(Source: Fine-Lubinsky Syndrome; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)

Who gets Fine-Lubinsky Syndrome? (Age and Sex Distribution)

  • Fine-Lubinsky Syndrome is a rare congenital disorder. The presentation of symptoms may occur at birth
  • Both males and females may be affected
  • Worldwide, individuals of all racial and ethnic groups may be affected

What are the Risk Factors for Fine-Lubinsky Syndrome? (Predisposing Factors)

  • A positive family history may be an important risk factor, since Fine-Lubinsky Syndrome can be reportedly inherited
  • Currently, no other risk factors have been clearly identified for FLS

It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases one’s chances of getting a condition compared to an individual without the risk factors. Some risk factors are more important than others.

Also, not having a risk factor does not mean that an individual will not get the condition. It is always important to discuss the effect of risk factors with your healthcare provider.

What are the Causes of Fine-Lubinsky Syndrome? (Etiology)

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
  • 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

(Source: Fine-Lubinsky Syndrome; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)

Autosomal recessive: Autosomal recessive conditions are traits or disorders that occur when two copies of an abnormal gene have been inherited on a non-sex chromosome. If both parents have an autosomal recessive condition, there is a 100% likelihood of passing on the mutated genes to their children. If, however, only one mutant copy of the gene is inherited, the individual will be a carrier of the condition, but will not be present with any symptoms. Children born to two carriers, have a 25% chance of being homozygous dominant (unaffected), a 50% chance of being heterozygous (carrier), and a 25% chance of being homozygous recessive (affected).

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.

  • Absent axillary hair
  • Brachycephaly  
  • Brachydactyly
  • Breast hypoplasia
  • Camptodactyly
  • Cataract
  • Cerebral atrophy
  • Flat face
  • Generalized hypotonia
  • Growth delay
  • Hearing impairment
  • Hypertelorism
  • Intellectual disability
  • Low-set ears
  • Malar flattening
  • Narrow mouth
  • Pectus excavatum of inferior sternum  
  • Posteriorly rotated ears
  • Rocker bottom foot
  • Scrotal hypoplasia
  • Seizures
  • Shallow orbits
  • Short nose
  • Sporadic
  • Superior pectus carinatum
  • Tapered finger

Based on the frequency of symptoms observed, the following information may be noted: (Occasionally present symptoms in 5-29% of the cases)

  • Cryptorchidism 
  • Downslanted palpebral fissures
  • Hypoplasia of the corpus callosum
  • Long eyelashes
  • Long philtrum 
  • Megalocornea
  • Microtia
  • Scoliosis 
  • Shawl scrotum

(Source: Fine-Lubinsky Syndrome; Orphanet, National Institute of Health and Medical Research (INSERM), Paris.)

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 which may be present at birth (congenital)

(Source: Fine-Lubinsky Syndrome; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)

Many clinical conditions may have similar signs and symptoms. Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis.

What are the possible Complications of Fine-Lubinsky Syndrome?

The complications of Fine-Lubinsky Syndrome may include:

  • Infertility
  • Intellectual impairment
  • Walking difficulties
  • Reduced quality of life

Complications may occur with or without treatment, and in some cases, due to treatment also.

How is Fine-Lubinsky Syndrome Treated?

There is no cure for Fine-Lubinsky Syndrome, since it is reportedly a genetic condition. The treatment is usually given to manage the signs and symptoms and any complications that develops.

How can Fine-Lubinsky Syndrome be Prevented?

  • Currently, Fine-Lubinsky Syndrome may not be preventable, since it is a genetic disorder
  • If there is a family history of the condition, then genetic counseling will help assess risks, before planning for a child
  • Active research is currently being performed to explore the possibilities for treatment and prevention of inherited and acquired genetic disorders
  • Regular medical screening at periodic intervals with tests and physical examinations are recommended

What is the Prognosis of Fine-Lubinsky Syndrome? (Outcomes/Resolutions)   

  • 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

(Source: Fine-Lubinsky Syndrome; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)

Additional and Relevant Useful Information for Fine-Lubinsky Syndrome:

A 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
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Krish Tangella MD, MBA

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