BabyScreen+ newborn screening

Gene: TFAP2A

Red List (low evidence)

Syndromic causes of deafness have been excluded.

Created: 29 Dec 2022, 6:46 a.m. | Last Modified: 29 Dec 2022, 6:46 a.m.

Panel Version: 0.1717

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Branchiooculofacial syndrome, MIM 107580

I don't know

Gene-disease association: strong. 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

Severity: severe

Age of onset: congenital

Non-molecular confirmatory testing: No, other than clinical findings

Treatment: ? symptomatic only. Genereviews states: In general, children with BOFS should be managed by a multispecialty team including, for example, craniofacial specialists, plastic surgeons, otolaryngologists, and speech therapists. Small, linear or superficial branchial skin defects may heal spontaneously; however, some require surgical intervention. Anophthalmia or severe microphthalmia may require a conformer; nasolacrimal duct stenosis or atresia often requires surgery. It is recommended that cleft lip be repaired by an experienced pediatric plastic surgeon.

Created: 29 Dec 2022, 2:12 a.m. | Last Modified: 29 Dec 2022, 2:12 a.m.

Panel Version: 0.1710

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
MIM 107580 Branchiooculofacial syndrome