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Disease Profile
Branchiooculofacial syndrome
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
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Age of onset
Neonatal
ICD-10
Q18.8
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.
X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Not applicable
Other names (AKA)
BOFS syndrome; Branchial clefts with characteristic facies growth retardation imperforate nasolacrimal duct and premature aging; Hemangiomatous branchial clefts-lip pseudocleft syndrome;
Categories
Congenital and Genetic Diseases; Ear, Nose, and Throat Diseases; Mouth Diseases
Summary
Branchiooculofacial
Symptoms
This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
Medical Terms | Other Names |
Learn More:
HPO ID
|
|
---|---|---|---|
80%-99% of people have these symptoms | |||
Abnormality of the pinna |
Abnormally shaped ears
Auricular malformation
Deformed ears
Malformed ears
[ more ] |
0000377 | |
Atypical scarring of skin |
Atypical scarring
|
0000987 | |
Conductive hearing impairment |
Conductive deafness
Conductive hearing loss
[ more ] |
0000405 | |
Deep philtrum | 0002002 | ||
Everted lower lip vermilion |
Drooping lower lip
Outward turned lower lip
[ more ] |
0000232 | |
Hemangioma |
Strawberry mark
|
0001028 | |
Low-set, posteriorly rotated ears | 0000368 | ||
Postauricular pit |
Pit behind the ear
|
0004464 | |
Preauricular pit |
Pit in front of the ear
|
0004467 | |
Supraauricular pit |
Pit above the ear
|
0008606 | |
30%-79% of people have these symptoms | |||
Broad nasal tip |
Broad tip of nose
Broad, upturned nose
Increased breadth of nasal tip
Increased breadth of tip of nose
Increased width of nasal tip
Increased width of tip of nose
Nasal tip, broad
Nasal tip, wide
Wide tip of nose
[ more ] |
0000455 | |
Dolichocephaly |
Long, narrow head
Tall and narrow skull
[ more ] |
0000268 | |
Fingernail dysplasia |
Abnormal fingernail development
|
0100798 | |
High palate |
Elevated palate
Increased palatal height
[ more ] |
0000218 | |
Intrauterine growth retardation |
Prenatal growth deficiency
Prenatal growth retardation
[ more ] |
0001511 | |
Iris coloboma |
Cat eye
|
0000612 | |
Microdontia |
Decreased width of tooth
|
0000691 | |
Nasal speech |
Nasal voice
|
0001611 | |
Nasolacrimal duct obstruction |
Blocked tear duct
|
0000579 | |
Neurological speech impairment |
Speech disorder
Speech impairment
Speech impediment
[ more ] |
0002167 | |
Non-midline cleft lip | 0100335 | ||
Premature graying of hair |
Early graying
Premature graying
Premature greying
Premature hair graying
[ more ] |
0002216 | |
Reduced number of teeth |
Decreased tooth count
|
0009804 | |
Decreased body height
Small stature
[ more ] |
0004322 | ||
Upslanted palpebral fissure |
Upward slanting of the opening between the eyelids
|
0000582 | |
Wide nasal bridge |
Broad nasal bridge
Broad nasal root
Broadened nasal bridge
Increased breadth of bridge of nose
Increased breadth of nasal bridge
Increased width of bridge of nose
Increased width of nasal bridge
Nasal bridge broad
Wide bridge of nose
Widened nasal bridge
[ more ] |
0000431 | |
5%-29% of people have these symptoms | |||
Clouding of the lens of the eye
Cloudy lens
[ more ] |
0000518 | ||
Hydronephrosis | 0000126 | ||
Microcornea |
Cornea of eye less than 10mm in diameter
|
0000482 | |
Multicystic kidney dysplasia | 0000003 | ||
Preaxial hand |
Extra thumb
|
0001177 | |
Drooping upper eyelid
|
0000508 | ||
Renal agenesis |
Absent kidney
Missing kidney
[ more ] |
0000104 | |
Strabismus |
Cross-eyed
Squint
Squint eyes
[ more ] |
0000486 | |
Upper lip pit | 0100268 | ||
1%-4% of people have these symptoms | |||
Cleft of chin | 0011323 | ||
Dimple chin |
Chin butt
Chin dent
Chin dimple
Chin skin dimple
Indentation of chin
[ more ] |
0010751 | |
Facial palsy |
Bell's palsy
|
0010628 | |
Hearing impairment |
Deafness
Hearing defect
[ more ] |
0000365 | |
Microphthalmia |
Abnormally small eyeball
|
0000568 | |
Postnatal growth retardation |
Growth delay as children
|
0008897 | |
Retinal coloboma |
Hole in the back of the eye
|
0000480 | |
Sparse hair | 0008070 | ||
Percent of people who have these symptoms is not available through HPO | |||
Abnormality of the dentition |
Abnormal dentition
Abnormal teeth
Dental abnormality
[ more ] |
0000164 | |
Agenesis of cerebellar vermis | 0002335 | ||
Anophthalmia |
Absence of eyeballs
Failure of development of eyeball
Missing eyeball
No eyeball
[ more ] |
0000528 | |
Aplasia cutis congenita |
Absence of part of skin at birth
|
0001057 | |
0000006 | |||
Branchial anomaly | 0009794 | ||
Cleft roof of mouth
|
0000175 | ||
Cleft upper lip |
Harelip
|
0000204 | |
Clinodactyly of the 5th finger |
Permanent curving of the pinkie finger
|
0004209 | |
Cryptorchidism |
Undescended testes
Undescended testis
[ more ] |
0000028 | |
Depressed nasal bridge |
Diagnosis BOFS can be diagnosed clinically based on the characteristic features of this condition.
Please note: Most of the laboratories listed through GeneTests do not accept direct contact from patients and their families; therefore, if you are interested in learning more, you will need to work with a health care provider or a genetics professional. Testing Resources
Related diseasesRelated diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.
OrganizationsSupport and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD. Organizations Supporting this Disease
Learn moreThese resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional. Where to Start
In-Depth Information
References
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