Fraser Syndrome
What is Fraser Syndrome?
Fraser syndrome is an autosomal recessive disorder that occurs due to the abnormal prenatal development of some organs. In recessive disorders, both parents must carry and pass on a defective gene for the child to be affected. Affected individuals often have fused eyelids, fingers, and toes. The reproductive and urinary tract, respiratory tract, and the kidneys may also be affected.
Fraser syndrome is an autosomal recessive disorder that occurs due to the abnormal prenatal development of some organs. In recessive disorders, both parents must carry and pass on a defective gene for the child to be affected. Affected individuals often have fused eyelids, fingers, and toes. The reproductive and urinary tract, respiratory tract, and the kidneys may also be affected.
Approximately, 1 per two hundred thousand live newborns are affected by Fraser syndrome. One per ten thousand infants that are born dead are also affected. Males and females are affected equally.
Fraser syndrome is associated with defects in three genes: FRAS1, GRIP1, FREM2. FRAS1 and FREM2 are two genes that encode proteins involved in the development of the skin and internal organs. GRIP1 encodes a protein that facilitates the proper localization of FREM2 and FRAS1 in the cell. Defects in any of these genes impair the functions of these proteins and disrupt the development of certain organs and tissues before birth. This abnormal development is believed to be due to a disruption in the programmed cell death during development before birth.
Individuals affected by Fraser syndrome commonly have completely fused eyelids (cryptophthalmos). In some cases, only one eye is affected or the eyelids only partially cover the eyes. The eyes are too small (microphthalmia) or missing (anophthalmia) in some cases. The eyebrows of the eyelashes may be missing. Other facial abnormalities include the malformation of the ears and the nose, cleft palate, and tooth crowding. Another common abnormality is the fusion of the skin between fingers and toes, a condition known as cutaneous syndactyly. Most frequently, the three middle fingers and toes are involved.
Abnormalities of the urinary and reproductive tracts are also common. One or both of the kidneys may be missing (renal agenesis). During male reproductive development, the testes develop in the abdomen and descend into the scrotum in later stages. In males affected by Fraser syndrome, the testes may remain in the abdomen (cryptorchidism). The penis may be abnormally small (micropenis) or the urinary opening may not be located at the tip of the penis (hypospadias). In affected females, the fallopian tubes may be malformed. The uterus might have horn-like extensions known as bicornuate uterus.
Other common abnormalities are present in the respiratory tract. The voicebox, also known as the larynx, might be abnormal. The tube that carries air to the lungs or the trachea may also be involved.
Diagnosis of Fraser syndrome is made based on clinical examination and family history. Due to the distinctive features of this syndrome, diagnosis is often made based on a set of major and minor clinical criteria. The major criteria include fused eyelids, fused toes and fingers, abnormal reproductive organs, urinary and respiratory tract anomalies, and family history. Less specific or minor criteria include ear and nose malformation, skeletal abnormalities, cleft lip or palate, and intellectual disability.
Fraser syndrome can usually be diagnosed at birth based on its distinctive features. Sometimes, ultrasonographic imaging allows for the detection of certain diagnostic features even before birth. Genetic testing can be helpful in confirming the diagnosis.
Treatment is targeted towards specific symptoms of each affected individual and depends on the severity. In some cases, surgery may be required.
The prognosis is largely dependent on the severity of the symptoms. Less than half of individuals affected by Fraser syndrome die shortly after birth. Individuals with milder symptoms may live into adulthood or even have a normal life span.
Genetic Home Reference. Fraser Syndrome. Available from https://ghr.nlm.nih.gov/condition/fraser-syndrome
Barisic I, Odak L, Loane M, Garne E, Wellesley D, Calzolari E, et al. Fraser Syndrome: Epidemiological Study in a European Population. American Journal of Medical Genetics. 2013: 161(5). 1012-8. doi: 10.1002/ajmg.a.35839
Tessier A, Sarreau M, Pelluard F. André G, Blesson S, Bucourt M. Fraser syndrome: features suggestive of prenatal diagnosis in a review of 38 cases. Prenatal Diagnosis. 2016;36(13):1270-1275. doi: 10.1002/pd.4971
Dumitru A, Costache M, Lazaroiu A, Simion G, Secara D,Cirstoiu M, et al. Fraser Syndrome - a Case Report and Review of Literature. Maedica (Buchar). 2016;11(1):80–83. Available from https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5394498/
Last updated 11 Dec 2015, 04:14 PM
11 Dec 2015, 04:14 PM
Thanks for all this info! We have an amazing nine year old daughter with Fraser Syndrome. I was just googling "support groups" last night and found this. I know that there will come a day when she will want to feel like she's not alone! I will check out the facebook group.
10 Dec 2015, 06:49 AM
Hi I just joined that group Glenda. I just had fb message today from a mum who has four year old son affected. So thought i would google Frasers again to see what is happening. They have isolated the gene on Chromosome 4. Can have genetic testing done to see if a carrier etc. So i suppose they might be able to do genetic testing when pregnant. please let us know when baby has safely arrived. Your welcome to email me chris@chrismcqueenimages.com. Glenda we haven't spoken for years. Hope you are well? I live in Kyogle now. Moved back closer to the farm. But live in town as I am photographer and have studio room here. After everything I went through I now specialise in newborn photography. I am also Heartfelt photographer for Northern Rivers. http://www.heartfelt.org.au/ i think after the loss , being a registered nurse and pro photographer I was made for heartfelt. Is heart breaking at times...
22 Oct 2015, 05:11 PM
I tried adding you but I cant find you when I search. Just try searching the group. My name is Melissa :)
Last updated 17 Jun 2013, 03:11 PM
17 Jun 2013, 03:11 PM
I am from Flint MI,my granddaughter does have some sort of light perception in the one eye she does have.But we really don't know for sure how much.She can only comprehend a few words right now,and we are waiting for her to be able to tell use what she can actually see.She has a beautiful glass eye to fit into the empty socket and a clear conformer to fit over the one very small eye.The conformer and glass eye are in place to help her look normal and to keep the eyes from looking as though there are sinking in as you have seen with other blind individuals Did the doctor suggest some sort of eye drops to keep the eyes wet after the eye lid surgery? I had a son born with Down Syndrome who did not have tear ducts and basically he always looked as though his eyes were swollen.The doctors here suggested we go to Ann Arbor Children's hospital to speak to someone about tear duct surgery.That was many years ago,but I am sure if you contact Kellogg Eye Institute in Ann Arbor MI you may find some answers to your questions. Any more info you need,I am there for you. Granny
16 Jun 2013, 04:57 PM
I don't mean to pry, but does your granddaughter have any vision in the eye after opening the eyelid? My daughter has good light perception, but her doctor is worried about maintaining the eyes after opening her lids as she has no tear ducts. Also, where are you from? We're from Canada. Any information is greatly appreciated.
16 Jun 2013, 01:04 PM
Hello, my granddaughter is 10 years old and has Fraser Syndrome. She had surgery for fused eyelids and the surgery was a huge success! the surgery was done when she was almost 2yrs old. The doctors at the Kellogg Eye Institute and Ann Arbor hospital are the best for handling this type of surgery. Even though she was born with one eye and blind in the other, she is a very happy kid and is learning more everyday by leaps and bounds.
Last updated 7 Apr 2012, 09:34 PM
7 Apr 2012, 09:34 PM
Hey! If you're reading this then best bet is YOU ARE THERE! Great! I just wanted to tell a little about myself and why I'm here. I stumbled upon this site while googling up more information about Fraser Syndrome (which I was born with). What I found here is a bit upsetting, speaking about people who were born with Fraser Syndrome as though they're not 'normal'. But I'll put my pride aside and save you from having to read my rant. Why? Cause I'm nice :) Now, for anyone out there who are a parent or related to anyone with Fraser Syndrome in anyway, I'd like to give you a tip. Possibly the most important tip you'll ever receive. Here it is: We just want to be treated equally. That SHOULD be applied to anyone with a rare condition. We are/will be hammered down daily by the judgmental stares and whispers of the (cruel) public. It's something we have to accept and get through, but having a nonjudgmental and proud family on our side helps tremendously. So please, just be grateful for the life that has been gifted upon your lap. Do not be ashamed and do not grieve for the fraser fellow. Be as encouraging as you can.
Last updated 9 Jan 2011, 08:25 AM
9 Jan 2011, 08:25 AM
Hi Everyone, What I would have given to have this community when my heart was breaking. Alec died one hour after birth. Fell pregnant again straight away only to find out that Alec died of Fraser Syndrome. Had a ultrasound with Jayne and she had no kidneys. I had twelve hour labour and gave birth at just 20wks gestation. Had six month break and said we had one in four chance of having a baby affected. I tried and had top people in Australia say she perfect baby girl. Rebecca died also after brith. Larynegal stenosis. Such sad time but alias I fell again and had healthy son. But he had webbing of second and third toes on both feet. Nothing else. Then gave birth to another baby boy and he was perfect again. This time no webbing like his two brothers and sisters. We were told to keep trying because we wouldnt have chance of adoption etc. Sounds like they have identified the gene. So my boys can be checked to see if they are carriers. I wish we had known their where babies that survived and live. Just no clue on anything to do with this syndrome because it so rare. We are all related because we carry this gene. So hello to you all. Lovely meeting you and your strengths and heart. Thank you for helping parents who have a child with this syndrome. Advice is so precious. Chris
20 Aug 2010, 03:00 PM
You are absolutely right with what i have researched the genes have been identified. The ones who are the specialists on this syndrome are in south America believe it or not and, there are many cases of this syndrome in certain areas especially where consanguineous marriages are common practice. The thing is many die at birth or soon after the under developed laryngeal is to blame as well as renal agenesis and the other issues of under developed organs and, brain. I would advise you to get an attorney only because you need help now I would also get all th medical history's you have together ssd is a headache and a half. Nowadays they put the kids on it right away but in the past that wasn't so. I hope the best for you Wendy thats the best advice I can give you now. Be proud of yourself and, all that you have accomplished you have done much aside from what you have been dealing with and I have alot of respect for you and, hope all the best. Julie~ kaousjulie@verizon.net
20 Aug 2010, 02:20 PM
It has been awhile since I have been able to post on here. Kept telling me that my password was incorrect and wouldn't send me a new one. My thoughts are this: for something that is so rare, there are more people being effected by it. Welcome to those I haven't seen on here before. If there are this many cases on this forum, how many more are there out there that don't have the internet to find similar cases? I knew a doctor that was going genetic testing to try to determine why the genes mutate. However, she had to close the project due to a lack of funding and lack of test subjects. One word of advice to the parents with teenagers with Frasers that are in the US. It would be very wise to check with your state and see if they have a local Vocational Rehabilitation agency. Once your child gets ready to graduate high school, I would say about six months before, take them to your local VR agency and apply for services. They can help with tuition for college and any assistance your child might need (glasses, hearing aids, and etc). I would also recommend that parents with children effected by Frasers apply for social security disability for their children. Here is why: your child would get medicaid which would cover medical expenses for them as they are younger and older. Your insurance plan will only cover them for so long once they reach the age of 18 and they may not cover everything they need. Secondly, finding a job when you live with Frasers is incredibly hard, but not impossible. This will give them something to fall back on until they are able to secure full time employment that is stable. If they take a job and it doesn't work out, they are able to get back on SSD. I wish my parents had done this as I have a hard time getting a job and keeping a job as my hearing is getting worse and my vision is getting worse and other health problems. I am stuck waiting for SSD for another 12 months, if not longer. I am having to appeal it yet again as they don't think I am disabled. where as if my parents had gotten me on it when I was younger, this would not be an issue. The fact that I didn't get into the system before I started working and now I am doing it after I started working, it is incredibly hard for me to get the help I need. They don't consider that health problems get worse or it is harder for me to find jobs or that I am the first one to get laid off when they start laying off ppl. I have never received it before and now that I need it due to my health becoming worse, I have to wait for it and I cannot do that being a single woman. I don't live with my family and I am not married. I don't like recommending the SSD as it seems to further point to the label I want to avoid but it is something that reality forces you to deal with. I could really use some support right now so if anyone is up to it, feel free to email me: faithrocs2@aol.com
Last updated 5 Jan 2010, 08:37 PM
5 Jan 2010, 08:37 PM
So I am seeing a major issue with my niece is the brain damage she suffered while they were trying to intabate her. They then did a trachea but I think her brain has been severely damaged by the lack of oxygen I don't know the first step. I am wondering if she is in a vegetative state or if this is to due with her brain being also under developed due to the Fraser. It kinda looks like the left side of her head is sunken I am wondering about her brain. But my in-laws said she has a normal brain. That doesn't make sense to me? Any suggestions! Thanks Julie
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Alec was born 10lb and 60 cm long. He died of airway was blocked.
Told one in a million.
Fell pregnant six weeks...
Fraser Syndrome is the bi-product of the interaction of genes received from one’s parents. It is an autosomal recessive genetic disorder and it...
I have questions and answers for anyone.
I also have a 21yr old daughter with triple x syndrome.
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Created by rkvv0720 | Last updated 11 Dec 2015, 04:14 PM
Hello everyone my baby suffer fraser
Created by jaababe | Last updated 17 Jun 2013, 03:11 PM
Anyone still there?
Created by FraserOwl | Last updated 7 Apr 2012, 09:34 PM
Is there anyone who has had a experience with this?
Created by curlybella | Last updated 9 Jan 2011, 08:25 AM
Did any suffer brain damage due to lack of oxygen caused by undeveloped larynx?
Created by curlybella | Last updated 5 Jan 2010, 08:37 PM
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