Floating Harbor Syndrome

In 1973, Pelletier and Feingold described a young male who was seen at the Boston Floating Hospital with short stature, delayed speech and unusually triangular facial appearance. A further report of a similar case was published by Leisti et al. who had seen their patient at the Harbor General Hospital,  Torrance, California. They suggested the term Floating Harbor Syndrome. There are under a 100 recognized individuals with a diagnosis of Floating Harbor Syndrome worldwide (2018).

Floating-Harbor syndrome is a Global Specific Developmental Delay that affects people in various ways. There are many disorders or differences to that of a typically developing person, and as this is a very rare syndrome, any related medical information, is extremely difficult to come by. Any relevant data that we can collect from parents or qualified professionals, helps everyone connected understand how best to help the people affected by Floating Harbor Syndrome (FHS for short).

Please be assured that it is not a case of one size fits all, and you may recognize some disorders and not others. There a vast number of disorders that have been associated with people diagnosed with Floating Harbor Syndrome, however there are many with reports of no association at all. If you think of FHS as a spectrum, where the severity of any disorder can be reported as zero, minimal, moderate to high: there is no set rule that a person should match everything, just because it is listed as a symptom of having FHS.

Everyone affected is different, therefore parents should talk to their children’s physician or medical team about their specific case, associated symptoms and overall prognosis. It is vital however that the FHS child is monitored closely by specialized professionals throughout childhood, and parents are given every opportunity to share the experiences of their child from a parent’s perception. Working together is vital for a positive outcome.

Education for children with FHS is one of the big concerns for parents and the information provided here as a guidance for teachers, should be adhered to as much as possible; this is aimed to help the child have a positive learning experience. Click Here to view. Support on a one-to one basis would be suggested in an Educational environment, with specialized help.

Several factors including the small number of identified cases, the lack of large clinical studies, and the possibility of other genes influencing this disorder, prevent physicians from developing a complete picture of associated symptoms and prognosis. It is therefore important to note the following description of  FHS, comes directly from reports from parents, qualified medical professionals and academic jounals, rather than a typical diagnosis.

Sensory; High and Low pain threshold, Hypersensitivities to sensory input, Hypo sensitivities to sensory input, Hypersensitivity To Sounds, Hyposensitivity To Sounds, Hyposensitivity To Oral Input and Hypersensitivity To Oral Input. For a breakdown, please follow this link to our Sensory Processing Disorder section.

Speech and Language; Speech and language deficits are common in children with FHS. Expressive language deficits are most common and often most affected. Expressive language is the ability of a person to ‘output’ language or how people express themselves such as through speech or writing. It also encompasses the use of gestures and facial expressions. Some affected children also have receptive language deficits, in which they are unable to understand words and gestures. Affected individuals may have difficulty speaking (dysarthria) and exhibit a distinct, high-pitched nasally voice. In some cases, speech may be absent. Children may be described as having verbal dyspraxia, which refers to the difficulty or inability to coordinate the precise movements required to produce clear speech despite the absence of damage to the nerves or muscles. The severity of expressive and receptive language abnormalities can vary widely.

Physical attributes; Infants and children with FHS have distinctive facial features including a triangularly-shaped face; low-set ears; deep-set eyes with abnormally long eyelashes; thin lips; a broad, linear mouth; a prominent, triangular-shaped nose that is narrow at the root and broadens at the base; the bottom of the sheet of cartilage and bone (nasal septum) that separates the right and left nostrils (columella) may be low-hanging; the nostrils are large; and the groove that runs from the nose to the upper lip (philtrum) is short. These facial characteristics are the most distinctive features of FHS. Although they may change as an affected individual ages, the key features remain constant. In addition to growth deficiencies, children with FHS have a delay in bone aging in the first decade of life, which means that the rate of growth and calcification of the bones is slower than normal.

Affected individuals exhibit various skeletal malformations including short fingers and toes (brachydactyly); broad fingertips that give the appearance of clubbing; short, broad thumbs; and prominent joints. The pinkies may be fixed or ‘locked’ in a bent position (clinodactyly). Some individuals may have abnormalities of the collarbones (clavicles) including underdevelopment (hypoplasia) of the collarbone or the development of a ‘false joint’ (pseudoarthrosis). A false joint is a bony structure that usually develops at the site of a poorly united fracture that allows abnormal movement of the affected bones.

Early Developmental; Poor muscle tone is commonly seen in individuals with isodicentric chromosome 15 syndrome and contributes to delayed development and impairment of motor skills, including sitting and walking. In some cases, delayed growth may occur before birth (prenatal growth retardation) resulting in low birth weight. Typically, growth deficiencies become apparent during the first year of life. Affected children may be below average height for their age (short stature), and among the shortest 5 percent of their age group. In some cases, the onset of puberty may occur earlier than normal(Precocious puberty). Males may have undescended testicles (cryptorchidism) and hypospadias, a condition in which the tube that is connected to the bladder and discharges urine from the body (urethra) opens on the underside of the penis instead of the tip.

Additional issues have been reported in individuals with FHS including short bones in the hands (metacarpals); the presence of 11 pairs of ribs instead of 12; malformed (dysplastic) hips; abnormal curvature of the spine (kyphoscoliosis); seizures; backflow or leakage of the contents of the stomach into the oesophagus (gastroesophageal reflux); farsightedness (hyperopia); crossed eyes (strabismus); recurrent middle ear infections (otitis media); and conductive hearing loss.

Conductive hearing loss occurs when there is impaired transmission of sound from the outer or middle ear to the inner ear. The individual will shout and talk loudly. Normal hearing tests are not appropriate to pick up the affected areas, again, inform your physician of the above impaired transmission of sound. In some cases, affected individuals may exhibit kidney abnormalities such as cysts on the kidneys or swelling (distension) of the kidneys due to the abnormal accumulation of urine (hydronephrosis). This develops because of blockage within the urinary tract that prevents urine from being evacuated through the bladder. In some cases, there may be absence of the kidneys (agenesis).

Dental abnormalities are also common with FHS and it is of extreme importance that you should discuss your child’s background before any treatment starts. Dental anomalies may also occur including extra (supernumerary) teeth, delayed loss of primary (“baby”) teeth, abnormally small teeth (microdontia), and malocclusion, a condition in which the upper teeth are improperly positioned in relation to the lower teeth.

Psychological and behavioural issues; Attention hyperactivity, impulsivity, short attention span, anxiety, depression, immaturity, emotional detachment, low self-esteem, Cognitive functioning; Intellectual disability that is typically mild to moderate in degree has been reported.

Other disorders that have been reported in individuals with FHS include Coeliac disease, congenital heart defects, underactivity of the thyroid (hypothyroidism), and, in adulthood, high blood pressure (hypertension) and depression.



Floating-Harbor syndrome is caused by a mutation in the SRCAP gene. Genes provide instructions for creating proteins that play a critical role in many functions of the body. When a mutation of a gene occurs, the protein product may be faulty, inefficient, or absent. Depending upon the functions of the particular protein, this can affect many organ systems of the body.

Investigators have determined that the SRCAP gene is located on the short arm (p) of chromosome 16 (16p11). Chromosomes, which are present in the nucleus of human cells, carry the genetic information for each individual. Human body cells normally have 46 chromosomes. Pairs of human chromosomes are numbered from 1 through 22 and the sex chromosomes are designated X and Y. Males have one X and one Y chromosome and females have two X chromosomes. Each chromosome has a short arm designated “p” and a long arm designated “q”. Chromosomes are further sub-divided into many bands that are numbered.

In FHS, mutations in the SRCAP gene often occur as a new (sporadic or de novo) mutation, which means that in nearly all cases the gene mutation has occurred at the time of the formation of the egg or sperm for that child only, and no other family member will be affected. There are no silent carriers of FHS (i.e. if one carries a mutation in SRCAP, he/she will show signs of FHS).

Although most cases are due to sporadic mutations, dominant inheritance (where a trait is transmitted from either an affected mother or father to a child) has been documented in a few families. Genetic diseases are determined by the combination of genes for a particular trait that are on the chromosomes received from the father and the mother. Dominant genetic disorders occur when only a single copy of an abnormal gene is necessary for the appearance of the disease. The abnormal gene can be inherited from either parent, or can be the result of a new mutation (gene change) in the affected individual. The risk of passing the abnormal gene from affected parent to offspring is 50% for each pregnancy. The risk is the same for males and females.

The SRCAP gene creates (encodes) a protein that has several functions in the body. This protein is a cofactor (i.e. a substance required for a protein’s biological activity) for the CREB-binding protein (CREBBP). Mutations in the gene that produces CREB-binding protein cause Rubinstein-Taybi syndrome, a rare disorder with many overlapping symptoms to FHS.

We constantly strive to update information as and when it is available, therefore if you have anything to add, please contact us.





37 thoughts on “Floating Harbor Syndrome

  1. hello noni , the person you just replied to is my eldest sister , my name is glen and i am the brother and carer of kate who is my younger sister with FHS , because of the information you gave my sister sonia , i can now tell the dr tomorrow what to look for , as well as everything else , so thank you very much , we live in the uk , and nothing is known in this country about this condition , when you tell dr’s what kate has got they look at you as though you’ve just made that up , it is very frustrating , but not having any help from anyone , even for my mum when she was alive , you just have to get on with it , and get through the best you can , don’t know if this will help anyone else who has someone with FHS , but my sister fell about 6 years ago and dislocated her elbow , ever since then her elbow has dislocated fully about 19 times , sometimes just doing mundane things like pulling on her socks , or even her trousers , and come out only half then gone back in on it’s own about as many times again , she’s had MRI and CT scan but they said nothing was damaged , so wondering with the condition of FHS , if dislocation of joints with the bone retardation they have , is another sympton of FHS , so if anyone has had similar occurances with dislocated joints that could be the reason . Anyway thank you again noni , now i know where to go to find out things will speak again soon , hang tough everyone , and don’t let a DR tell you it’s in your head if you think there is something wrong with your child , because nobody knows your child like you do . And if anyone wants my email for a chat just ask .


    • Can one have a mini swear here ?? Perhaps so….. as I am the moderator.
      Bugger! Just somehow lost the info I just typed. I found some info about Kate’s elbow problem and cut and pasted it but now it has flown off to that eternal cyberspace. Well after midnight here so will follow up in the morning. Can’t find the article again but it can’t be far away. Sorry Glen ,but I will get back to you. You all sound like a great family. Bye for now, Noni


    • The part about a subluxed radial head might be important. But there are other joints that cause problems with FHS esp the hips and spine. Probably due to a number of factors, not just one. Kate’s Xray report might well be interesting to have another look at . Bye again, Noni

      A girl with Floating-Harbor syndrome reported by Hersh et al. (1998) showed trigonocephaly due to metopic suture synostosis, preauricular pit, hypoplastic thumb, subluxated radial head, and Sprengel deformity. From a review of other cases they suggested that trigonocephaly may be an important craniofacial manifestation recognizable in infancy but becoming less noticeable later when the face develops a triangular shape, accentuated by a broad and bulbous nose.


    • Hello.
      Our 10 year old girl hurt her elbow back in the summer, and when we took her to AandE the x ray appeared to show it was dislocated but she had full movement and wasn’t in extreme pain, so they concluded it couldn’t be, and left it alone. We subsequently saw an orthopaedic specialist who also decided not to intervene.
      However she is now in pain most days with it so we have asked for a further consultation. We think it may have dislocated some years ago without us knowing, but repaired itself in an odd position which is now causing problems.


  2. Hi there, I have a sister who will be 35 next week, she was diagnosed with FHS at quite a young age, has every one of the symptoms advertised, had a back operation in 2006 for Scoliosis but unfortunately yesterday she had a mild stroke, she’s still in hospital being monitored and having tests, but does anybody know whether this could be related to FHS or unfortunately something else, many thanks Sonia


    • Hi Sonia…… my thoughts are with you and your sister at this stressful time. Yes there is some information that strokes can be associated with FHS. The trouble apparently is with the blood vessels having aneurisms . I am guessing that your dear sister had a bleed on the brain as opposed to a clot type of stroke. One thing I would stress here is to check out her kidneys and of course blood pressure. If she has kidney cysts ( caused by a number of FHS factors but increase blood pressure is one of them) then that can cause the increase in blood pressure and perhaps lead to a stroke. I am sure she would be getting the best care in hospital but seeing as FHS is such a rare disorder not all medicos have a handle on this. I will try and find the article that has the info with FHS and strokes. My twin sons are 38 and have FHS and have scoliosis but that was compounded by a leg length discrepancy that made the curvature worse. To help one twin ( he had the more severe curve) had his leg broken and lengthened and that helped enormously . No fun for him though !

      Cannot stress enough to everyone out there. Please please please get the kidneys checked esp if one has high blood pressure.

      Thanks for your posting Sonia. Even though it is in trying circumstances, it is nice to know there is a FHS community out there.

      Bye for now and best wishes from Noni


    • Clin Dysmorphol. 2008 Oct;17(4):283-5. doi: 10.1097/MCD.0b013e328306a38d.
      Ruptured cerebral aneurysm in a patient with Floating-Harbor syndrome.

      Paluzzi A1, Viva LJ, Kalsi P, Mukerji N, Tzerakis N, Patton MA.
      Author information
      PMID: 18978661 DOI: 10.1097/MCD.0b013e328306a38d
      [Indexed for MEDLINE]
      Share on FacebookShare on TwitterShare on Google+

      See above for one such article. Will find others shortly. Regards, Noni


    • Floating-Harbor syndrome and polycystic kidneys associated with SRCAP mutation.

      Reschen M1, Kini U, Hood RL, Boycott KM, Hurst J, O’Callaghan CA.
      Author information
      Floating-Harbor syndrome (FHS) is a rare genetic disorder recently shown to be caused by mutations in the Snf2-related CREB-binding protein activator protein gene (SRCAP). It comprises three key clinical features of characteristic facies, expressive and receptive speech impairment and short stature. We report on a patient with this syndrome associated with early adult-onset hypertension and bilateral polycystic kidneys. Family screening for polycystic kidney disease was negative and mutations in polycystic kidney disease 1 and 2 genes (PKD1 and PKD2) were absent. Sequencing of the SRCAP gene demonstrated a de novo mutation matching one of the known FHS-associated mutations. The patient required treatment with anti-hypertensives and will require lifelong renal monitoring. We suggest this patient’s presentation may be due to the pleiotropic effects of SRCAP mutations. Further, the protein encoded by SRCAP is known to interact with CREB-binding protein, the product of the gene mutated in Rubinstein-Taybi syndrome, which is associated with renal abnormalities. A literature review of the renal findings in patients with Floating-Harbor syndrome identified another patient with possible polycystic kidneys, two patients with early onset hypertension, and a young patient with a ruptured intracranial aneurysm, which can be a feature of classic adult polycystic kidney disease. Collectively, these findings suggest that all patients with Floating-Harbor syndrome should undergo regular blood pressure monitoring and screening for polycystic kidneys by ultrasound at the time of the FHS diagnosis with imaging to be repeated during adulthood if a childhood ultrasound was negative.
      Copyright © 2012 Wiley Periodicals, Inc.

      PMID: 23165645 DOI: 10.1002/ajmg.a.35635
      [Indexed for MEDLINE]
      Share on FacebookShare on TwitterShare on Google+

      Another article. Regards, Noni


  3. Hi Jenny, When you asked in your posting about your worry about your grand daughter’s future, please keep in mind that these gorgeous kids develop much later than other kids. But, they get there and continue to develop all through their teenage and adult years. My sons still amaze me with new stuff they learn and they are in their 30’s. Their kindness and positive outlook on life certainly helps them to make their way in this world. Happy to chat any time. Bye for now, Noni


  4. Is this site still operating, there hasn’t been any messages for quite awhile? I have a 4 year old grand daughter with FHS. She was finally diagnosed about 18 months ago. She is an amazing little girl, but I worry about what her future holds. Jenny.


    • Hi Jenny
      Yes the site is operating, although very slowly we admit. Get in touch using our contact details and we can post photos and more good news.
      As for the future, no-one really knows. Hopefully we can share experiences to help each other.
      Stay in touch please


  5. Hi Christina. Thanks for your message. I am always in awe of what other families go through in getting a diagnosis. It can be an isolating journey indeed. And being blamed…. well, that is a horrible part that ,sad to say, a few of us have gone through. Autistic traits are certainly part of the FHS but there is nothing to suggest that one cannot have 2 separate diagnosis. I have seen that quite often in my profession. Not being sure of what supports there are in the UK it does make it difficult to offer advice. We have a great Autism Assoc. here in Western Australia and they can offer lots of information and support. Do you have a similar organisation in the UK? They could let you know all about options for testing. Plus the best ways of assisting your daughter to live and learn in her community etc. I can fully appreciate your concerns about testing for ASD as knowing as much as one can about our kids is the best way we can help them. Trouble is that there are all too often speed humps along the way. Does she have a great school/teachers who can instigate an assessment?
    Happy to chat anytime Christina. Love from over the seas, Noni


  6. Hello, I have a daughter who is 13 with FHS. She was diagnosed age 3, but I had to go private to get the diagnosis as the doctors said she had failure to thrive and blamed me. She has had the test for the chromosome disorder and she has the mutation on 16p 11.2. She also has Autistic traits (and a brother with Aspergers Syndrome) but doctors won’t test for ASD as she already has the FHS diagnosis. There is a Facebook group Floating Harbor Syndrome Support group, members are from as she round the world but include quite as she round few of us from the UK.


    • Hi Christina. We have a 10 year old girl with FSH, and would love to discuss the issues with you further. Can we connect directly ? Thanks
      Andrew R


  7. Good evening Noni and any one that may be able to advise.

    I am due to go to the geneticist at Guys hospital in London.
    My daughters characteristics are: reflux, coeliac, dental abnormalities, district facial features, delayed growth, short stature, delayed expressive language, broad nose, thin lips, feeding difficulties, odd hyperkinetic behaviour, excessive body hair, LONG eyelashes (dead straight), delayed learning disability, short filtrum.
    about 10 years ago there was a meeting of geneticists where Hollys case was presented. They understood why FHS was being presented but knocked it out as Hollys learning ability was more extreme.

    I would like to know if I should ask for any particular tests. If there are any new cases with more extreme learning disabilities. Holly is 31 years old. She is doubly incontinent. Has no idea of danger. Her language comprehension is quite extensive but speech is limited to a dozen essential words and then only the beginning of the word.

    I will try to upload a picture of Holly

    Many thanks for any information you might think I may find useful

    Kindest regards


    • Funny thing was that I was thinking about you so much today as I knew it was your special day tomorrow to see the Geneticist. I think the best thing is for me to email you directly a long list of our son’s medical history . There is always the possibility that Holly has 2 disorders among which FHS is one of them. In my line of work that is not uncommon. But it does cloud the picture making diagnosis’s even more difficult. I will get back to you as soon as I can. Lovely to hear from you Dawn and I do hope you have a really great 2016. Love, Noni


  8. Hello. My daughter is 31 years old tomorrow. We have an appointment with geneticist on 6 Jan next year at Guys Hospital. I am convinced Holly has FHS. Can tick most of symptoms. Some people disagree that I am digging this up again but I would like a diagnosis as her siblings are considering having children and may need screening (if possible) but the biggy is knowing what Holly may be susceptible to so that we may monitor and prevent any great ailments.
    It feels good to be able to communicate on familiar ground at last.


    • Hullo Dawn. Oh this sounds so familiar. Took us 35 years to finally get a diagnosis for our identical twins. I understand fully the drive to find out as it is very important to know for many reasons. It is great that you have an appointment with a Geneticist as they will be able to help. Mind you, once we had the test it took 9 months to get the results. But no matter, we eventually had the answer to a very big mystery. Although we searched and searched for decades ( many appointments, overseas trips to see medicos etc etc) we found it on the internet ourselves !! Many happy birthday wishes to your daughter. I hope she has a lovely day. My kindest regards, Noni


      • Good evening Noni

        Thank you for your reply. It is good to speak to some one that really does understand.
        Hollys mental age has been assessed as 2 years old which sounds a little more extreme than other FHS cases. She wears pads and her speech is limited to half a dozen words and those just the beginning of. She has on rare occasions said a whole word which raised my hopes but then never repeated. (Words were: aeroplane and Andrew (her brothers name) both were said absolutely perfectly.
        Her understanding of language is much better.
        All of the features /symptoms listed on this site are present in Hollys characteristics including dental abnormalities and the coeliac condition and all facial features.
        Motor skills were not as described here. Holly did not sit, crawl and walk as per her age group. This was much delayed. She also does not have scoliosis.
        It feels like I am asking you to confirm!! Sorry. So many unanswered questions.

        It sounds like you have been on quite a journey and at last you have an answer and you are able to address the kidney damage. It is a shame it wasn’t diagnosed much earlier and less damage done.
        I guess you should take some pride and consolation in the fact you had the energy and time to fight and find the answers. Many parents are too busy, tired and stressed to research and persevere to this end. And your achievements will go on to help others.

        How do they test for polycystic kidneys? What are the symptoms?
        Holly doesn’t cooperate at doctors or hospitals. I ask if she could be scanned when under anaesthetic for dental treatment but they just reply that it is a different department!

        The hospital have said she has polycystic ovaries! This was diagnosed after holly becoming quite hirsute around her chin and a blood test. Can’t scan as she doesn’t understand and cannot cooperate to have any tests.
        I am hoping our appointment in January will confirm FHS and further investigations will follow so that we know Holly is the healthiest Sean be.

        Thank you for taking the time to answer my email. Sorry for rambling

        Kindest regards


      • How lovely to hear back from you Dawn. I get the feeling we could talk for hours. Do you have access to Skype? Then we could get the coffee or a wine and really get cracking on exchanging our stories ! If you are happy to email me Holly’s photo that sometimes can help in a diagnosis but that really is the medical professions job not mine, but I would love a photo. Happy to email you one of my guys, they would not mind at all. Just about to head off to the airport to pick up our daughter who is arriving from Detroit where she is studying her Doctorate in Speech Pathology. She is coming home for Christmas, so all very excited here.
        As far as the kidney function goes there are a few things that can help in a diagnosis rather than be scanned. One of the first things I noticed was an odor about the guys so got them to go to the GP who really had no idea. She did some blood tests which were abnormal but said they were OK. Then said one of them had high blood pressure after he went to see her with the flu. Once again said he was OK. I was not happy and was in the process of changing Dr’s when he got really sick, back pain (and both have very high pain thresholds) and was passing blood in his urine. Did not mess around then and off to emergency we went. That ended up in a 4 day stay in hospital and lots of tests. Official diagnosis was Adult Polycystic Autosomal Dominant Kidney Disease. This diagnosis made no sense to me as there was no family history as such. Hence our search intensified and in fact my daughter was then able to access a new data base through her new Uni and there it was FHS! Still remember so clearly seeing a photo of someone with FHS and they looked exactly like my sons. Surreal moment indeed.
        So having said all of that, perhaps a urine test if possible, a blood test if possible. And also check blood pressure if Holly would tolerate that being done. The blood pressure is probably the most telling one.
        Now I best go otherwise the poor gal will be wondering where her loving mother is after travelling from the opposite side of the world!
        Many blessings to you and your family for a wonderful Christmas Dawn. Love, Noni


    • Hi and welcome Dawn. We hope that you can find the answers you seek. Well done for trying to do what you can to help, as any information the consultant can give you, may help other parents too.


  9. Thanks Noni for your input. Would you like to use the the contact form and email ideas and your experiences? I have added FHS Stories and Associated Difficulties/Disorders headings – all we need to do now is start filling them up with relevant data.


  10. I meant to add that the section on Educating children with FHS is brilliant. If only we had that knowledge when our sons were in school. Another long story. But, what is great that even though school was a real challenge for them, once they left school things improved hugely. Perhaps less academic stress, developmental catch up, who knows ……. so hang on in there things do get better and continue to grow and develop in this important area.


  11. A great idea to include relevant info such as Scoliosis. Might also be an idea to have an area where all the other signs of FHS can be added. Our list is very long indeed. Main concern is letting everyone know about the risk to kidney function due to polycystic kidney disease. So please one and all, check your blood pressure regularly and get kidney function tests done as well. Our sons were diagnosed after 35 years of intense searching ( as you can imagine a very long story here) but in the meantime, as we did not know about the diagnosis, their kidneys had been damaged . My best wishes to everyone. Regards, Noni


    • Hi Patricia, I have identical twin sons with FHS ,now 36 years of age and they both have scoliosis. Happy to chat further. We live in Western Australia. Funnily enough have just come back from a trip to Canada!


  12. Hello we have a child with floating harbor syndrome and need some advice as the doctor has not heard of this before and suggested we google it for expert opinion hope you can help us understand what is wrong with our child?


  13. Hy, my doughter have a Floating Harbor sindrome …. We live in Italy, if someone want to contact us it well be great. Thank you, happy Chrisymass! Monica and Shirley.


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