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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 or elsewhere.

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 ADULT syndrome.

Akkermans CH, Stern LM: Ankyloblepharon filiforme adnatum. Br J Ophthalmol 63:129, 1979.  [PubMed: 218608]
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 27:720, 1990.  [PubMed: 2277391]

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