Ankyloblepharon Filiforme Adnatum and Cleft Palate

At a glance

A very rare defect of congenital filiform fusion of the eyelids associated with cleft lip/palate.

Synonym

Congenital Filiform Fusion of the Eyelids with Cleft Palate and/or Cleft Lip.

Incidence

Isolated Ankyloblepharon Filiforme Adnatum (AFA) has been reported in numerous case reports, but the incidence is unknown. The association with cleft lip/palate has been described in less than 10 cases.

Genetic inheritance

The inheritance pattern is considered autosomal dominant with incomplete penetrance and variable expressivity. No genetic background or molecular data are available.

Clinical aspects

The eyelids remain fused until the fifth month of gestation and will normally be completely separated by the seventh month. In this potentially amblyogenic congenital abnormality, the child is born with a single or multiple bands of tissue partially or completely fusing the upper and lower eyelids. The defect can present either uni- or bilateral. Early surgical separation of the eyelids is important (and can often be done under topical anesthesia) to avoid occlusion amblyopia. AFA can present in isolation or be associated with other ocular (eg, infantile glaucoma and iridogoniodysgenesis) and extraocular anomalies (eg, trisomy 18, hydrocephalus, myelomeningocele, cardiac anomalies (eg, patent ductus arteriosus, ventricular septal defect), imperforate anus, bilateral syndactyly, ectodermal dysplasia), which should therefore be ruled out (see “Other conditions to be considered”).

Precautions before anesthesia

Routine preoperative assessment.

Anesthetic considerations

Cleft lip/palate in the absence of facial dysmorphism is usually not associated with difficult airway management. Cardiac anomalies (if present) may require a specific and tailored anesthetic approach. Meticulous attention should be paid to avoid air bubbles in infusion-lines in patients with right-to-left shunts.

Pharmacological implications

None specific to this disorder. Depending on the cardiac defect and the procedure, antibiotic prophylaxis for subacute bacterial endocarditis may be required.

Other conditions to be considered

• ☞AEC Syndrome (Hay-Wells Syndrome): AEC is an acronym that stands for Ankyloblepharon-Ectodermal defects and Cleft lip/palate. This autosomal dominant inherited disorder is caused by a mutation in the tumor protein p63 gene located on chromosome 3q27. It is associated with normal intelligence, ankyloblepharon filiforme adnatum, atresia of the tear ducts, sparse or absent eyelashes, broad nasal bridge, maxillary hypoplasia, cleft lip/palate, hypo- or oligodontia, atretic external auditory canal, and conductive hearing loss. Cardiac findings may include ventricular septal defect and patent ductus arteriosus. Hypospadias and micropenis have been described in males. Dermatologic findings include hyperpigmentation, scalp erosions, sparse scalp, and body hair with patchy alopecia, palmoplantar hyperkeratosis, and dystrophic nails.

• ☞CHANDS (Baughman Syndrome): Autosomal recessive inherited form of ☞Ectodermal Dysplasia associated with ankyloblepharon. CHANDS is an ...