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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Branchiooculofacial syndrome


Other Names for this Disease

  • BOFS syndrome
  • Branchial clefts with characteristic facies growth retardation imperforate nasolacrimal duct and premature aging
  • Hemangiomatous branchial clefts-lip pseudocleft syndrome
  • Lip pseudocleft-hemangiomatous branchial cyst syndrome
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Symptoms

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What are the signs and symptoms of branchiooculofacial syndrome (BOFS)?

The characteristic signs and symptoms of BOFS include skin defects, eye abnormalities, and distinctive facial features. These features vary among affected individuals. The skin defects include proliferation of blood vessels (hemangiomatous) in the lower neck or upper chest; lumps in the area of the neck or collarbone (branchial cleft sinuses); and linear skin lesions behind the ears. Eye abnormalities can include microphthalmia, coloboma, and strabismus. The distinctive facial features can include widely spaced eyes; the presence of a pseudocleft of the upper lip resembling a poorly repaired cleft lip; a malformed nose with a broad bridge and flattened tip; blockage of the tear ducts (lacrimal duct obstruction); and malformed ears. Often, affected individuals may have burn-like lesions behind the ears. Other features can include delayed growth, thymic and kidney abnormalities, dental abnormalities, and hearing loss. Intellect is usually normal.[1][2][3] 
Last updated: 6/23/2011

The Human Phenotype Ontology provides the following list of signs and symptoms for Branchiooculofacial syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms.

Signs and Symptoms Approximate number of patients (when available)
Low posterior hairline 92%
Low-set, posteriorly rotated ears 90.5%
Overfolded helix 90.5%
Abnormality of periauricular region 90%
Aplasia/Hypoplasia of the skin 90%
Chorioretinal coloboma 90%
Conductive hearing impairment 90%
Deep philtrum 90%
External ear malformation 90%
Sacrococcygeal pilonidal abnormality 90%
Nasolacrimal duct obstruction 74.4%
Cryptorchidism 73%
Proximal placement of thumb 72%
Short neck 66%
Elbow flexion contracture 64%
Telecanthus 58%
Aplasia cutis congenita 57%
Atypical scarring of skin 57%
Dermal atrophy 57%
Myopia 57%
Nystagmus 57%
Ptosis 57%
Abnormality of the teeth 56%
Flared irregular metaphyses 51%
Abnormality of the fingernails 50%
Abnormality of the nose 50%
Abnormality of the palate 50%
Abnormality of the voice 50%
Dolichocephaly 50%
Intrauterine growth retardation 50%
Iris coloboma 50%
Lacrimation abnormality 50%
Microdontia 50%
Micrognathia 50%
Neurological speech impairment 50%
Non-midline cleft lip 50%
Postnatal growth retardation 50%
Premature graying of hair 50%
Reduced number of teeth 50%
Short stature 50%
Upslanted palpebral fissure 50%
Anophthalmia 44%
Microphthalmos 44%
Hypoplastic superior helix 43%
Intellectual disability, mild 41.7%
Hypospadias 33%
Strabismus 30.6%
Gastroesophageal reflux 30%
Cataract 24.2%
Seizures 23%
Clinodactyly of the 5th finger 21.1%
Supraauricular pit 15%
Agenesis of cerebellar vermis 7.5%
Broad nasal tip 7.5%
Cleft palate 7.5%
Duplication of internal organs 7.5%
Lip pit 7.5%
Lower lip pit 7.5%
Malrotation of colon 7.5%
Microcornea 7.5%
Microtia 7.5%
Multicystic kidney dysplasia 7.5%
Postauricular pit 7.5%
Preaxial hand polydactyly 7.5%
Pyloric stenosis 7.5%
Renal agenesis 7.5%
Renal hypoplasia/aplasia 7.5%
White forelock 7.5%
Abnormality of the immune system -
Autosomal dominant inheritance -
Branchial anomaly -
Cleft upper lip -
Depressed nasal bridge -
Fusion of middle ear ossicles -
Hamartoma -
Hyperlordosis -
Hypertelorism -
Hypoplastic fingernail -
Kyphosis -
Malar flattening -
Nasal speech -
Preauricular pit -
Renal cyst -
Retinal coloboma -
Short nasal septum -
Short thumb -
Single transverse palmar crease -
Small forehead -
Supernumerary nipple -
Wide intermamillary distance -

Last updated: 12/1/2014

The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature.

The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined.

Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.


References
  1. Branchio Oculo Facial Syndrome. National Organization for Rare Disorders (NORD). 2007; http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/714/viewAbstract. Accessed 6/23/2011.
  2. Branchio-oculo-facial syndrome. Orphanet. January 2009; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1297. Accessed 6/23/2011.
  3. Lin AAE & Milunsky JM. Branchiooculofacial Syndrome. GeneReviews. May 31, 2011; http://www.ncbi.nlm.nih.gov/books/NBK55063/. Accessed 6/23/2011.


Other Names for this Disease
  • BOFS syndrome
  • Branchial clefts with characteristic facies growth retardation imperforate nasolacrimal duct and premature aging
  • Hemangiomatous branchial clefts-lip pseudocleft syndrome
  • Lip pseudocleft-hemangiomatous branchial cyst syndrome
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.