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An inherited syndrome involving mainly the face (incomplete closure of eyelids, cleft lip/palate, hypodontia), the existence of which, as a separate entity, is questionable.


Lagophthalmia with Cleft Lip and/or Palate.


Less than 10 cases have been reported. Autosomal dominant inheritance. Gorlin et al. suggested in 1996 that the family reported by Korula et al. in 1995 actually had blepharo-cheilo-dontic syndrome. Both genders are affected.


Lagophthalmia or pathologic incomplete closure of the eyelids is the common finding. Other ocular findings include megaloblepharon (large eyelids), distichiasis (double row of eyelashes), and ectropion of the lower eyelids. Bilateral cleft lip and palate is usually present. Hypodontia or delayed dentition occur less commonly. Clinodactyly and hypoplastic fingernails have occurred only in the three cases reported from one family.


The main considerations relate to cleft lip and palate. Affected children may suffer from repeated episodes of upper respiratory tract infections. Anemia and malnourishment may be present because of feeding difficulties. A large or bilateral cleft palate may cause difficulties with intubation. Cleft palate repair is rarely complicated by excessive blood loss or swelling of the tongue causing obstruction after extubation. Although not a specific feature of this syndrome, congenital heart disease has been associated with cleft lip and/or palate. Protect the eyes during anesthesia with lubricants and tape to keep them shut.


Blepharo-Cheilo-Dontic Syndrome: Very similar syndrome with cleft lip and/or palate, ectropion of lower eye-lids, hypertelorism, abnormal teeth, and autosomal dominant transmission.

Gorlin RJ, Zellweger H, Curtis MW, et al: Blepharo-cheilo-dontic (BCD) syndrome. Am J Med Genet 65:109, 1996.  [PubMed: 8911600]
Korula S, Wilson L, Salomonson J: Distinct craniofacial syndrome of lagophthalmia and bilateral cleft lip and palate. Am J Med Genet 59:229, 1995.  [PubMed: 8588591]

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