Table 4. [Branchiooculofacial Syndrome: Treatment of Manifestations]. - GeneReviews®

Manifestation/Concern	Treatment	Considerations/Other
Branchial defects	Most larger skin defects require surgical excision. Note: Skin defects should not be cauterized.	Branchial or supra-auricular skin defects that are small, linear, or superficial may heal spontaneously.
Sinus tracts must be dissected by experienced pediatric plastic surgeon.	Exploration for a thymic remnant may be necessary; such tissue should be sent for histopathologic exam. If dermal thymic tissue is present, evaluate for mediastinal thymic tissue prior to excision of ectopic thymus.
Ophthalmic manifestations	Management per pediatric ophthalmologist	Obstruction from nasolacrimal duct stenosis or atresia must be relieved & affected persons monitored for restenosis. Severe microphthalmia or anophthalmia may be managed by inserting a conformer into the eye socket to encourage its growth.
Cleft lip/palate	Surgical treatment by pediatric plastic surgeon experienced in treating cleft lip In addition to the nasal tip flattening or asymmetry that may be assoc w/cleft lip, a characteristic full, flat nasal tip may need a corrective procedure.	Lesser forms of cleft lip (formerly known as "pseudocleft") may need surgical correction. ¹
Ears/Hearing	Affected persons may need reconstruction of malformed protruding pinnae. Hearing loss is treated routinely (see Hereditary Hearing Loss and Deafness Overview).	If diagnosed in early infancy, auricular molding may be indicated.
Renal manifestations	Standard treatment per nephrologist/urologist
Dental manifestations	Standard treatment per dentist/orthodontist
Neurodevelopment/ Behavior	Sensory, psychologic, & developmental challenges should be treated w/supportive therapies.	Currently, data are insufficient to recommend requiring more psychologic support for more severely affected persons.
Congenital heart defect	Standard treatment per cardiologist

Manifestation/Concern

Treatment

Considerations/Other

Branchial defects

Most larger skin defects require surgical excision.
Note: Skin defects should not be cauterized.

Branchial or supra-auricular skin defects that are small, linear, or superficial may heal spontaneously.

Sinus tracts must be dissected by experienced pediatric plastic surgeon.

Exploration for a thymic remnant may be necessary; such tissue should be sent for histopathologic exam.
If dermal thymic tissue is present, evaluate for mediastinal thymic tissue prior to excision of ectopic thymus.

Ophthalmic manifestations

Management per pediatric ophthalmologist

Obstruction from nasolacrimal duct stenosis or atresia must be relieved & affected persons monitored for restenosis.
Severe microphthalmia or anophthalmia may be managed by inserting a conformer into the eye socket to encourage its growth.

Cleft lip/palate

Surgical treatment by pediatric plastic surgeon experienced in treating cleft lip
In addition to the nasal tip flattening or asymmetry that may be assoc w/cleft lip, a characteristic full, flat nasal tip may need a corrective procedure.

Lesser forms of cleft lip (formerly known as "pseudocleft") may need surgical correction. ¹

Ears/Hearing

Affected persons may need reconstruction of malformed protruding pinnae.
Hearing loss is treated routinely (see Hereditary Hearing Loss and Deafness Overview).

If diagnosed in early infancy, auricular molding may be indicated.

Renal manifestations

Standard treatment per nephrologist/urologist

Dental manifestations

Standard treatment per dentist/orthodontist

Neurodevelopment/
Behavior

Sensory, psychologic, & developmental challenges should be treated w/supportive therapies.

Currently, data are insufficient to recommend requiring more psychologic support for more severely affected persons.

Congenital heart defect

Standard treatment per cardiologist

From: Branchiooculofacial Syndrome

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