Branchiooculofacial syndrome
BOFS

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Prevalence (%) of clinical parameters based on data from 7 references describing 310 individuals







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 Pubmed id number as a reference Organ system affected
Number of patients in the reference Percent affected patients (Between 0 and 1, eg. 0.1 = 10%)
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List of symptoms



Symptom/sign Organ system Percent affected Pubmed id Added on(yyyy-mm-dd) Edit/add reference
Low set ears integumentary 100 % 29760939 2022-11-09
Stenosis of round window skeletal 100 % 29760939 2022-11-09
Stenosis of oval window skeletal 100 % 19764023 2022-11-09
Downturned corners of mouth integumentary 100 % 7200726 2022-11-09
Microphthalmia skeletal 100 % 8832722 2022-11-09
Hearing loss nervous 100 % 19764023 2022-11-09
Hearing loss nervous 100 % 29760939 2022-11-09
Nasolacrimal duct stenosis skeletal 100 % 8832722 2022-11-09
Nasolacrimal duct stenosis skeletal 100 % 29760939 2022-11-09
Bifid nasal tip integumentary 100 % 8832722 2022-11-09
Nasolacrimal duct stenosis skeletal 99 % 36263936 2022-11-09
Zygomatic hypoplasia skeletal 98 % 7747785 2022-11-09
Branchial cleft sinus defects integumentary 93 % 29760939 2022-11-09
Ear malformation skeletal 91 % 29760939 2022-11-09
Nasolacrimal duct stenosis skeletal 74 % 7747785 2022-11-09
Micrognathia skeletal 66 % 25325185 2022-11-09
Cleft lip or palate skeletal 66 % 29760939 2022-11-09
Microphthalmia skeletal 64 % 36263936 2022-11-09
Protruding lips integumentary 56 % 8832722 2022-11-09
Low set ears integumentary 50 % 25325185 2022-11-09
Dental abnormalities skeletal 50 % 25325185 2022-11-09
Kidney cysts urinary 50 % 29760939 2022-11-09
Cleft lip or palate skeletal 48 % 7747785 2022-11-09
Intrauterine growth retardation multi 47 % 7747785 2022-11-09
Alopecia integumentary 38 % 7747785 2022-11-09
Short stature skeletal 38 % 7747785 2022-11-09
Hypodontia skeletal 37 % 7747785 2022-11-09
Hearing loss nervous 37 % 7747785 2022-11-09
Preauricular pits integumentary 33 % 7747785 2022-11-09
Cleft lip or palate skeletal 33 % 8832722 2022-11-09
Upslanting palpebral fissures skeletal 33 % 29760939 2022-11-09
Graying of hair integumentary 33 % 8832722 2022-11-09
Developmental delay nervous 33 % 7747785 2022-11-09
Strabismus nervous 31 % 7747785 2022-11-09
Microphthalmia skeletal 31 % 7747785 2022-11-09
Ptosis integumentary 28 % 7747785 2022-11-09
Myopia nervous 28 % 29760939 2022-11-09
Polydactyly skeletal 25 % 25325185 2022-11-09
Contracture skeletal 25 % 25325185 2022-11-09
Lung dysplasia respiratory 25 % 25325185 2022-11-09
Hearing loss nervous 25 % 25325185 2022-11-09
Cleft lip or palate skeletal 25 % 25325185 2022-11-09
Anopthalmia skeletal 25 % 25325185 2022-11-09
Cataract nervous 24 % 29760939 2022-11-09
Graying of hair integumentary 24 % 7747785 2022-11-09
Dolichocephaly skeletal 23 % 7747785 2022-11-09
Clinodactyly skeletal 21 % 29760939 2022-11-09
Microphthalmia skeletal 20 % 29760939 2022-11-09
Kidney cysts urinary 16 % 7747785 2022-11-09
Preauricular tags integumentary 14 % 29760939 2022-11-09
Hemangiomatous branchial cleft integumentary 13 % 7747785 2022-11-09
Hydronephrosis urinary 11 % 7747785 2022-11-09
Renal agenesis urinary 11 % 7747785 2022-11-09
Vesico-urethral reflux urinary 11 % 7747785 2022-11-09
Scalp cysts skeletal 11 % 29760939 2022-11-09
Brachydactyly skeletal 11 % 7747785 2022-11-09
Lip pits integumentary 10 % 29760939 2022-11-09
Mental retardation nervous 8 % 7747785 2022-11-09
Anopthalmia nervous 7 % 7747785 2022-11-09
Hypertrichosis integumentary 7 % 7747785 2022-11-09
Hypertelorism skeletal 7 % 7747785 2022-11-09
Orbital cyst skeletal 5 % 7747785 2022-11-09
Broad nasal bridge skeletal 5 % 7747785 2022-11-09
Nail dystrophy integumentary 2 % 7747785 2022-11-09



List of references:


Novel mutation in a Japanese family with Branchio-oculo-facial syndrome.
Taisuke Sato, Osamu Samura, Noriko Kato, Kosuke Taniguchi, Ken Takahashi, Yuki Ito, Hiroaki Aoki, Masahisa Kobayashi, Ohsuke Migita, Aikou Okamoto, Kenichiro Hata,



Human genome variation - 2018



Confirmation of TFAP2A gene involvement in branchio-oculo-facial syndrome (BOFS) and report of temporal bone anomalies.
C Stoetzel, S Riehm, V Bennouna Greene, V Pelletier, J Vigneron, B Leheup, V Marion, S Hellé, J M Danse, C Thibault, L Moulinier, F Veillon, H Dollfus,



American journal of medical genetics. Part A - Oct 2009



Bilateral branchial cleft sinuses associated with intrauterine and postnatal growth retardation, premature aging, and unusual facial appearance: a new syndrome with dominant transmission.
W K Lee, A W Root, N Fenske,



American journal of medical genetics - Mar 1982



Colobomatous microphthalmia with midfacial clefting: part of the spectrum of branchio-oculo-facial syndrome?
E Richardson, C Davison, A T Moore,



Ophthalmic genetics - Jun 1996



A New Case and Comprehensive Review of the Ophthalmic Manifestations of 172 Individuals With Branchio-Oculo-Facial Syndrome.
Kevin Lam, Benjamin Cassidy, Rolando Arreola, Hind Al Saif, Kayla King, Natario L Couser,



Journal of pediatric ophthalmology and strabismus - 2023



Further delineation of the branchio-oculo-facial syndrome.
A E Lin, R J Gorlin, I W Lurie, H G Brunner, I van der Burgt, I V Naumchik, N V Rumyantseva, S Stengel-Rutkowski, K Rosenbaum, P Meinecke,



American journal of medical genetics - Mar 1995



Branchio-oculo-facial syndrome: a three generational family with markedly variable phenotype including neonatal lethality.
Hannah L Titheradge, Chirag Patel, Nicola K Ragge,



Clinical dysmorphology - Jan 2015