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Fraser Syndrome

Last updated Sept. 15, 2018

Approved by: Krish Tangella MD, MBA, FCAP

Fraser Syndrome is a rare genetic developmental disorder that affects multiple parts of the body. It is congenital in nature.


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

  • Cyclopism
  • Fraser-François Syndrome
  • Ullrich-Feichtiger Syndrome

What is Fraser Syndrome? (Definition/Background Information)

  • Fraser Syndrome is a rare genetic developmental disorder that affects multiple parts of the body. It is congenital in nature. The children and the unborn fetuses, affected by this syndrome have a poor survival rate
  • Defective mutations of gene present on chromosome 4 are the cause for the disorder. Fraser Syndrome is autosomal recessive, implying that the genetic defect has to be inherited from both parents, for the condition to occur
  • The characteristic feature of this abnormality is fused eyelids (called cryptophthalmos), where the eyes appear hidden, or almost absent. Other anomalies include speaking, swallowing, and hearing difficulties, fused digits on hands and feet, etc.
  • Fraser Syndrome is managed on a case-by-case basis; often urgent surgical intervention is required to treat kidney or laryngeal abnormalities that are present

Who gets Fraser Syndrome? (Age and Sex Distribution)

  • Fraser Syndrome is an extremely rare condition that manifests itself at birth
  • No male-female gender preference is observed
  • It is predominantly noticed among the gypsy population (Roma ethnicity) of southern and eastern Europe

What are the Risk Factors for Fraser Syndrome? (Predisposing Factors)

Risk factors of Fraser Syndrome include:

  • Fraser Syndrome runs in the families and hence, children born in families with a medical history of the condition are at risk. Those having consanguineous partners or spouses, have the greatest risk
  • There is a racial predisposition for this disorder. Babies born in certain gypsy families (particularly of the Roma tribe) seem to have a greater risk

It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases ones 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 Fraser Syndrome? (Etiology)

  • Fraser Syndrome is caused by inheriting an autosomal recessive gene, lying on chromosome 4 that is defective. The mutated gene is said to disturb or change the normal and physiologically programmed cell death sequence (termed as apoptosis)
  • Due to this genetic defect there is an overgrowth of cells (similar to what is observed in cancer) resulting in fused webbing of the finger and toes, sealed eyelids, closed ear condition, and additional skin folds
  • Medical researchers are still trying to determine and isolate the specific gene that causes this genetic disorder

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 Fraser Syndrome?

Signs and symptoms of Fraser Syndrome that affect multiple parts and organs of the body are numerous. They include the following:

  • Vision disorders or blindness caused by fused eyelids (the eyes appear hidden or absent) - either one eye, or both the eyes are affected. The presence of small eyes, or improperly formed eyes lacking tear ducts. The eyes may be widely spaced too
  • Speaking and swallowing problems, due to nasal or oral defects. A blocked or narrowed nasal cavity (and larynx) is due to the presence of excess bone/tissue. The nasal passage is cleaved, and the tongue may be forked
  • Fingers and/or toes may be fused - most often the 3rd and 4th digits are jointed.  Sometimes, all digits are jointed together (called syndactyly). Presence of an extra toe or a finger, after the 5th digit (called polydactyly)
  • Pelvic bone abnormalities, such as wide hips due to bony defect
  • Hearing disorders or deafness, due to ear defects. Malformed ears, closed outer ear, missing eustachian tube (auditory canal), may be present
  • Severe genital abnormalities in both male and female sexes are often present
  • Other signs and symptoms include: Irregularly set nipples and navel, the temples may be covered by hair

How is Fraser Syndrome Diagnosed?

Exams and tests for the diagnosis of Fraser Syndrome may be performed on pregnant women, or on the newborn child. These include:

  • A thorough physical examination of the newborn child and evaluation of the family medical history
  • There are four principle and eight minor diagnostic features, which identify Fraser Syndrome. Some of these characteristics that are basically used to confirm the disorder include:
    • Fused eyelids
    • Fused digits on the limbs
    • Genital abnormalities
    • And, if the affected child has already a sister or brother, with a similar disorder
  • Ultrasound scans on pregnant women are used to observe the classic signs of Fraser Syndrome. These include urine flow blockage, pulmonary obstruction, fluid accumulation in the abdomen, and the lack of kidney development

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 Fraser Syndrome?

Complications of Fraser Syndrome could lead to fatalities. Some of these include:

  • Absence of kidney(s), malformed or malfunctioning kidneys. Due to kidney abnormalities, the amniotic fluid may be reduced or even absent (oligohydramnios)
  • Defective formation of the larynx, resulting in stillbirth
  • Disorder formation of hemoglobin resulting in abnormal red blood cells formation (hemoglobinopathy)
  • Very high level of fluid accumulation in tissues around the neck, causing a condition called cystic hygroma
  • Severe mental retardation

How is Fraser Syndrome Treated?

Immediate surgical treatment measures are required to address the most critical of medical issues, which are renal damage or the absence of the kidneys, and laryngeal defects; kidney transplantation may be performed, if necessary.

Management of other abnormalities of Fraser Syndrome is undertaken on a case-by-case basis. These measures include:

  • Surgical correction of the eyelids, genitals, nose, ear, fused skin/tissue defects, including any intestinal abnormalities
  • Once the eyelids are corrected, the vision-related concerns are addressed
  • Special therapy is required to help individuals with both hearing and vision loss
  • Supportive care and therapy is provided for individuals with other physical and mental disabilities

How can Fraser Syndrome be Prevented?

  • Currently, there are no specific methods or guidelines to prevent Fraser Syndrome genetic condition
  • Genetic testing of the expecting parents (and related family members, especially those belonging of gypsy origin) and prenatal diagnosis (molecular testing of the fetus during pregnancy) may help in understanding the risks better during pregnancy
  • 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

What is the Prognosis of Fraser Syndrome? (Outcomes/Resolutions)

  • Fraser Syndrome is a fatal genetic disorder with a poor prognosis. Statistics show that around 45% of the infants, do not make it past the initial 12 month period
  • The survival rate increases, if both the kidney and larynx are ‘near-properly’ formed and they function normally. Blocked larynx and absent kidneys are the leading causes of death with Fraser Syndrome
  • With timely, aggressive, and active treatment administration, the defect can be effectively managed and controlled. Nevertheless, most children suffer from moderate to severe developmental delays and mentally retarded growth

Additional and Relevant Useful Information for Fraser Syndrome:

There are voluntary organizations and support groups that provide help and understanding to the individuals, parents, and families, of the Fraser Syndrome affected.

What are some Useful Resources for Additional Information?


References and Information Sources used for the Article:


Helpful Peer-Reviewed Medical Articles:


Reviewed and Approved by a member of the DoveMed Editorial Board
First uploaded: May 18, 2014
Last updated: Sept. 15, 2018