GTR Home > Conditions/Phenotypes > Branchiooculofacial syndrome

Disease characteristics

Excerpted from the GeneReview: Branchiooculofacial Syndrome
The branchiooculofacial syndrome (BOFS) is characterized by: branchial (cervical [90%] or infra- or supra-auricular [60%]) skin defects that range from barely perceptible thin skin or hair patch to erythematous “hemangiomatous” lesions to large weeping erosions; ocular anomalies that can include microphthalmia, anophthalmia, coloboma, and nasolacrimal duct stenosis/atresia; and facial anomalies that can include ocular hypertelorism or telecanthus, broad nasal tip, upslanted palpebral fissures, cleft lip or prominent philtral pillars that give the appearance of a repaired cleft lip (formerly called "pseudocleft lip") with or without cleft palate, upper lip pits and lower facial weakness (asymmetric crying face or partial 7th cranial nerve weakness). Malformed and prominent pinnae and hearing loss from inner ear and/or petrous bone anomalies are common. Intellect is usually normal.

Associated genes

  • Also known as: RP1-290I10.1, AP-2, AP-2alpha, AP2TF, BOFS, TFAP2, TFAP2A
    Summary: transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)

Clinical features

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  • Pyloric stenosis
  • Premature graying of hair
  • Short stature
  • Broad nasal tip
  • Renal agenesis
  • Short neck
  • Deep philtrum
  • Preauricular pit
  • Short nasal septum
  • Kyphosis
  • Small forehead
  • Microcephaly
  • Microdontia
  • Intrauterine growth retardation
  • Dolichocephaly
  • Anophthalmia
  • Renal hypoplasia/aplasia
  • Low-set, posteriorly rotated ears
  • Telecanthus
  • Malar flattening
  • Flared irregular metaphyses
  • Hypoplastic superior helix
  • Posterior auricular pit
  • Supraauricular pit
  • Branchial anomaly
  • Fusion of middle ear ossicles
  • Microtia
  • Postnatal growth retardation
  • Low posterior hairline
  • Proximal placement of thumb
  • Micrognathia
  • Single transverse palmar crease
  • Seizure
  • Cataract
  • Nystagmus
  • Strabismus
  • Renal cyst
  • Cleft palate
  • Multicystic kidney dysplasia
  • Cryptorchidism
  • Hypospadias
  • Abnormality of the teeth
  • Abnormality of the palate
  • Lower lip pit
  • Cleft upper lip
  • Everted lower lip vermilion
  • Hypertelorism
  • Abnormality of the nose
  • Abnormality of periauricular region
  • Overfolded helix
  • Conductive hearing impairment
  • Sensorineural hearing impairment
  • Retinal coloboma
  • Microcornea
  • Ptosis
  • Myopia
  • Chorioretinal coloboma
  • Microphthalmos
  • Nasolacrimal duct obstruction
  • Upslanted palpebral fissure
  • Iris coloboma
  • Lacrimation abnormality
  • Atypical scarring of skin
  • Aplasia cutis congenita
  • Preaxial hand polydactyly
  • Abnormality of the fingernails
  • Intellectual disability, mild
  • Abnormality of the voice
  • Nasal speech
  • Hypoplastic fingernail
  • Gastroesophageal reflux
  • Neurological speech impairment
  • White forelock
  • Agenesis of cerebellar vermis
  • Supernumerary nipples
  • Abnormality of the immune system
  • Elbow flexion contracture
  • Hyperlordosis
  • Clinodactyly of the 5th finger
  • Dermal atrophy
  • Malrotation of colon
  • Duplication of internal organs
  • Depressed nasal bridge
  • Wide intermamillary distance
  • Aplasia/Hypoplasia of the skin
  • External ear malformation
  • Short thumb
  • Reduced number of teeth
  • Hamartoma
  • Sacrococcygeal pilonidal abnormality
  • Lip pit
  • Non-midline cleft lip
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