This entity is an ectodermal dysplasia defect
associated with a cleft lip/palate. It is most often associated with
congenital filiform fusion of the eyelids.
Congenital Filiform Fusion of the Eyelids with Cleft
Palate and/or Cleft Lip.
Ankyloblepharon filiform fusion
of eyelids has been reported in approximately 30 cases. The association
with cleft lip/palate has been described in fewer than 10 cases. The
inheritance pattern is autosomal dominant with incomplete penetrance and
variable expressivity. It is not certain whether this represents a separate
mutation. No genetic background or molecular data are available.
In ankyloblepharon filiforme adnatum, the eyelid
margins are partially or completely fused together with a normal horizontal
fissure. The child presents with ectodermal defects: seborrhea of the scalp
There is no evident impairment of
general health in patients with this disorder. Three cases have been
associated with trisomy 18 (Edwards syndrome), and the combination with
hydrocephalus and a myelomeningocele has been described in one case.
AEC Syndrome: Autosomal dominant inherited disorder caused by
a mutation in the tumor protein p63 gene located on 3q27. It is associated
with normal intelligence, ankyloblepharon filiforme adnatum, atresia of the
tear duct, sparse or absent eyelashes, maxillary hypoplasia, cleft
lip/palate, hypodontia or oligodontia, broad nasal bridge, atretic external
auditory canal, and conductive hearing loss. Cardiac findings include
ventricular septal defect and patent ductus arteriosus. Hypospadias and
micropenis have been described in males. Dermatologic signs include
palmoplantar hyperkeratosis, hyperpigmentation, scalp erosions, dystrophic
nails, and sparse scalp and body hair with patchy alopecia. Depending on the
procedure, subacute bacterial endocarditis prophylaxis may be required.
CHANDS: Autosomal recessive inherited disorder presenting with
curly hairs, hypoplastic nails, and eyelid fusion.
Ectrodactyly, Ectodermal Dysplasia, and Clefting (EEC)
Syndrome: Autosomal dominant inherited syndrome with maxillary hypoplasia,
mild malar hypoplasia, cleft lip/palate, choanal atresia, hearing loss,
photophobia and blepharophimosis, dacryocystitis, cryptorchidism,
hypogonadotropic hypogonadism renal agenesis or dysplasia, hydronephrosis,
occasionally mental retardation, central diabetes insipidus.
ADULT Syndrome: Main findings are hypodontia, very brittle
and/or premature loss of permanent teeth, and ectrodactyly (split hands and
feet). There is no evident impairment of general health in patients with
Akkermans CH, Stern LM: Ankyloblepharon filiforme adnatum. Br J Ophthalmol
Hay RJ, Wells RS: The syndrome of ankyloblepharon, ectodermal defects and
cleft lip and palate: An autosomal dominant condition. Br J Dermatol 94:287, 1976.
Evans DGR, Evans ID, Donnai, D, et al: Ankyloblepharon filiforme adnatum in
trisomy 18 Edwards syndrome. J Med Genet