Branchiooculofacial syndrome

Preferred Label : Branchiooculofacial syndrome;

Symbol : BOFS;

CISMeF acronym : BOFS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : 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; Bof syndrome;

Description : Branchiooculofacial syndrome (BOFS) is characterized by branchial cleft sinus defects, ocular anomalies such as microphthalmia and lacrimal duct obstruction, a dysmorphic facial appearance including cleft or pseudocleft lip/palate, and autosomal dominant inheritance. Although anomalies of the external and middle ear frequently cause conductive hearing loss in BOFS, severe to profound sensorineural hearing loss due to inner ear anomalies has rarely been reported (summary by Tekin et al., 2009). See also chromosome 6pter-p24 deletion syndrome (612582) for a similar phenotype, which lies telomeric to the TFAP2A gene.;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the transcription factor AP2-alpha gene (TFAP2A, 107580.0001);

Prefixed ID : #113620;

Details

Origin ID

113620;

UMLS CUI

C0376524;

Currated CISMeF NLP mapping
- Branchio-Oculo-Facial syndrome [MeSH concept]
- Branchio-oculo-facial syndrome [ICD-11 More detail]
- Branchio-oculo-facial syndrome [ORDO Disease]
- Branchiooculofacial syndrome (disorder) [SNOMED CT concept]
- branchio-oto-renal syndrome [MeSH Descriptor]
- branchiooculofacial syndrome [DO Concept]
- branchiooculofacial syndrome [Disease (Nov.)]
DO Cross reference
- branchiooculofacial syndrome [DO Concept]
Genes related to phenotype
- Transcription factor ap2-alpha [OMIM gene]
HPO term(s)
- Abnormality of the dentition [HPO term]
- Agenesis of cerebellar vermis [HPO term]
- Anophthalmia [HPO term]
- Aplasia cutis congenita [HPO term]
- Atypical scarring of skin [HPO term]
- Autosomal dominant inheritance [HPO term]
- Branchial anomaly [HPO term]
- Broad nasal tip [HPO term]
- Cataract [HPO term]
- Cleft of chin [HPO term]
- Cleft palate [HPO term]
- Cleft upper lip [HPO term]
- Clinodactyly of the 5th finger [HPO term]
- Conductive hearing impairment [HPO term]
- Cryptorchidism [HPO term]
- Depressed nasal bridge [HPO term]
- Dermal atrophy [HPO term]
- Dermoid cyst [HPO term]
- Dimple chin [HPO term]
- Dolichocephaly [HPO term]
- Duplication of internal organs [HPO term]
- Ectopic thymus tissue [HPO term]
- Elbow flexion contracture [HPO term]
- Facial palsy [HPO term]
- Flared irregular metaphyses [HPO term]
- Flattened nasal bridge [HPO term]
- Fusion of middle ear ossicles [HPO term]
- Gastroesophageal reflux [HPO term]
- Hamartoma [HPO term]
- Hearing impairment [HPO term]
- Hyperlordosis [HPO term]
- Hypernasal speech [HPO term]
- Hypertelorism [HPO term]
- Hypoplastic fingernail [HPO term]
- Hypoplastic superior helix [HPO term]
- Hypospadias [HPO term]
- Intellectual disability, mild [HPO term]
- Intrauterine growth retardation [HPO term]
- Iris coloboma [HPO term]
- Kyphosis [HPO term]
- Lordosis [HPO term]
- Low posterior hairline [HPO term]
- Low-set ears [HPO term]
- Lower lip pit [HPO term]
- Malar flattening [HPO term]
- Malrotation of colon [HPO term]
- Microcephaly [HPO term]
- Micrognathia [HPO term]
- Microphthalmia [HPO term]
- Microtia [HPO term]
- Microtia [HPO term]
- Myopia [HPO term]
- Nasal speech [HPO term]
- Nasolacrimal duct obstruction [HPO term]
- Nystagmus [HPO term]
- Overfolded helix [HPO term]
- Postauricular pit [HPO term]
- Posteriorly rotated ears [HPO term]
- Postnatal growth retardation [HPO term]
- Preauricular pit [HPO term]
- Preaxial hand polydactyly [HPO term]
- Premature graying of hair [HPO term]
- Prenatal growth deficiency [HPO term]
- Proximal placement of thumb [HPO term]
- Ptosis [HPO term]
- Pyloric stenosis [HPO term]
- Renal agenesis [HPO term]
- Renal cyst [HPO term]
- Retinal coloboma [HPO term]
- Seizure [HPO term]
- Sensorineural hearing impairment [HPO term]
- Short nasal septum [HPO term]
- Short neck [HPO term]
- Short thumb [HPO term]
- Single transverse palmar crease [HPO term]
- Small forehead [HPO term]
- Sparse hair [HPO term]
- Strabismus [HPO term]
- Supernumerary nipple [HPO term]
- Supraauricular pit [HPO term]
- Telecanthus [HPO term]
- Upslanted palpebral fissure [HPO term]
- White forelock [HPO term]
- Wide intermamillary distance [HPO term]
ORDO concept(s)
- Branchio-oculo-facial syndrome [ORDO Disease]
See also inter- (CISMeF)
- BOR syndrome [ORDO Disease]
- branchio oto renal syndrome [Disease (Nov.)]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Branchio-Oculo-Facial syndrome [MeSH concept]
- Branchio-oculo-facial syndrome [ORDO Disease]
- Branchio-oculo-facial syndrome [ICD-11 More detail]
- Branchiooculofacial syndrome (disorder) [SNOMED CT concept]
- branchiooculofacial syndrome [Disease (Nov.)]

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