Bilateral microtia
Gene: TFAP2A
OMIM 113620: Branchiooculofacial syndrome
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 reportedCreated: 1 Aug 2016, 11:36 a.m.
OMIM 113620: Branchiooculofacial syndrome
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 reportedCreated: 1 Aug 2016, 11:33 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
External and middle ear anomalies; branchial cleft sinus defects; ocular anomalies
Publications
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
#113620:Branchiooculofacial syndrome [Prenatal growth deficiency (27%); Postnatal growth deficiency (50%); Microcephaly; Micrognathia; Small forehead; Low-set ears; Posteriorly rotated ears; Hypoplastic superior helix; Microtia; Posterior auricular pit; Preauricular pit; Overfolded ears; Supraauricular sinuses; Conductive hearing loss; Lacrimal sac fistula; Orbital dermoid cyst; Iris pigment epithelial cyst; Combined hamartoma of the retina and retinal pigment epithelium; Upslanting palpebral fissures; Telecanthus; Hypertelorism; Ptosis; Lacrimal duct obstruction; Iris coloboma; Retinal coloboma; Microphthalmia; Anophthalmia; Myopia; Cataract; Strabismus; Broad nasal tip; Divided nasal tip; Depressed nasal bridge; Short nasal septum; Pseudocleft; Incomplete/complete cleft lip; Cleft palate; Lip pits; Dental abnormalities; Branchial anomalies; Widely spaced nipples; Supernumerary nipples; Renal agenesis; Cystic kidney; Malar hypoplasia; Mastoid hypoplasia with absence of air cells; Fusion of middle ear ossicles; Kyphosis; Lordosis; Polydactyly; Clinodactyly; Single transverse palmar crease; Hypoplastic thumbs; Aplasia cutis congenita; Subcutaneous scalp cysts; Hemangiomatous branchial clefts (extend along sternocleidomastoid muscle); Single transverse palmar crease; Hypoplastic fingernails; Premature graying of hair; Mild mental retardation; Agenesis of cerebellar vermis; Hypernasal speech; Ectopic thymus]
Publications
This gene has been classified as Red List (Low Evidence).
TFAP2A was added to Bilateral Microtiapanel. Sources: Expert list