Genetic disorders happen when there are harmful changes to genes or pathogenic variants. These changes are also known as mutations. Genetic disorders can also occur when there's a missing amount of genetic material is present in the body. Genetic disorders can be present at birth or develop over time. They fall into three categories: chromosomal, multifactorial, and single-gene.
There are believed to be over 7,000 genetic disorders out there. Some common genetic disorders include Down syndrome, Turner syndrome, autism spectrum disorder, cystic fibrosis, and sickle cell disease. Rare genetic disorders include Ehlers-Danlos syndrome, mitochondrial disease, and Fraser syndrome.
But what is Fraser syndrome? How common is Fraser syndrome? What is the Fraser syndrome life expectancy? You may be wondering about these questions if you or someone you know has recently given birth to a child who has been diagnosed with Fraser's syndrome.
Fraser syndrome is a rare genetic disorder that results in certain characteristics that occur early in prenatal development. In The U.S., there’s an estimate of around 5,000 or fewer patients with Fraser syndrome. Both men and women are affected equally. Fraser syndrome has been viewed in the Romani population of southern and eastern Europe more than other ethnic groups.
Fraser syndrome is also known by other names, including:
- Cryptophthalmos-syndactyly syndrome
- Cryptophthalmos syndrome
- Cryptophthalmos with other malformations
- Fraser-Francois syndrome
- Meyer-Schwickerath syndrome
- Ulrich-Feichtiger syndrome
Fraser Syndrome Symptoms
Fraser syndrome occurs during the age of onset, or before birth, and the symptoms vary from person to person. It typically results in the occurrence of several physical deformities. The most common sign is the eyelids, which often fail to form and are fused. This is known as cryptophthalmos and has been observed in 93% of affected people. Other symptoms include:
- An eye that is covered completely in skin
- One or both eyes are partially covered in skin
- Small eyes (microphthalmia)
- Missing eyes (anophthalmia)
- Abnormal or absent lacrimal tear ducts, or the tear ducts that deliver tears between the eye's surface to the nasal cavity
- Increased distance between eyes (hypertelorism)
- Vision loss resulting from eye abnormalities
- Fingers that are fused/joined together
- Toes that are fused/joined together
- Kidney issues, including the absence of one or both kidneys, improper kidney development, and underdeveloped kidneys
- Genital abnormalities, including issues with a male’s testes, urinary opening, and penis, or issues with the female’s fallopian tubes, uterus, and vagina
- Middle ear issues are typically observed as middle ear abnormalities
- Anal issues such as anal atresia or imperforate anus, typically observed as the absence of the anus, and anal stenosis or a narrowing anal cavity
- Bifid tongue or a tongue with an indentation or fork
- Dental crowding or changes in how the teeth are aligned in the dental arch
There are several other symptoms that may be present but occur less frequently. If you notice anything physically different about your child, consult your doctor.
Fraser Syndrome Treatment
There are no cures for Fraser syndrome. Surgery may be needed to improve certain abnormalities, depending on the severity. Other treatment plans include symptomatic and supportive treatments. Your doctor and a team of specialists will evaluate your child and develop a treatment plan for their symptoms.
The prognosis of Fraser syndrome depends on the severity and treatment plans. Death within the first year is common in cases where the abnormalities are significant. This is especially true if the respiratory and anal tracts are severely impacted. Otherwise, life expectancy is normal.
Genetic counseling may need to be considered. There may also be some clinical trials available for your child, so be sure to check in with the government clinical trials on what trials are available and how they may help.
Fraser Syndrome Causes
Fraser syndrome is a genetic disorder, which means that it occurs due to mutations in the genes. The genes resulting in Fraser syndrome are the FRAS1, FREM2, and GRIP1 genes. The most common gene affected is the FRAS1 and is the cause of more than half of the Fraser syndrome cases. The other two genes account for small percentages of cases.
Additionally, Fraser syndrome is inherited from the autosomal recessive pattern. This means that genes in both cells must have mutations for Fraser syndrome to occur. Each parent carries one copy of the mutated gene, but shows no signs of Fraser syndrome. When the parents conceive a child, their genes have a chance of being passed onto their child, resulting in Fraser syndrome.
Diagnosing Fraser Syndrome
Fraser syndrome is usually diagnosed by ultrasound at the 18-week mark of gestation. A prenatal ultrasonographic diagnosis may be performed if there’s a family history of the disorder, or gene mutations are known to inhabit the parents. Microphthalmia and syndactyly, or enlarged echogenic lungs, must be present on the prenatal ultrasound to diagnose Fraser syndrome.
If Fraser syndrome is not diagnosed before birth, then it will usually be diagnosed at birth due to specific signs the newborn child presents. Either one major and one minor abnormality, or two major abnormalities and one minor abnormality must be present at birth to receive a proper Fraser syndrome diagnosis.
Additionally, genetic testing can be performed to confirm a Fraser syndrome diagnosis.
Living with Fraser Syndrome
Fraser syndrome has a mixed life expectancy, with the most severe cases dying in their first year of life, while others can go on to live relatively normal lives. Since rare diseases sometimes have limited information available about them, it can be challenging to cope with these conditions. It can also be overwhelming for people suffering from Fraser's syndrome or other rare disorders to manage their day-to-day lives. Some common difficulties with rare disorders, such as Fraser syndrome, include:
- Financial difficulties
- Adjusting to specific activities and roles
- Need of caregivers
Luckily, there are many ways to improve the quality of life for those living long-term with Fraser syndrome. Managing the symptoms and condition mostly happens through supportive care, such as:
- Having a medical team develop a specialized care plan
- Support through family and friends
- Connecting to others through patient and caregiver organizations
- Organizations can offer financial support and help with disabilities
- Immediate assistance is offered through the crisis support helplines via phone
There are a few government provisions and subsidies that help people living with rare disorders, including access to affordable medications, access to innovative medicine and therapies, and telehealth services.