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At a glance

It is an inherited medical condition characterized by facial features such as incomplete closure of eyelids, cleft lip/palate, and hypodontia., the existence of which, as a separate entity, is questionable.


Lagophthalmia Cleft Lip and/or Palate Syndrome.


Gorlin et al suggested in 1996 that the family reported by Korula et al in 1995 actually had Blepharo-Cheilo-Dontic Syndrome.


Less than 10 cases have been reported in the literature.

Genetic inheritance

It is an autosomal dominant inheritance. Both genders are affected.

Clinical aspects

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 teething occurs less commonly. Clinodactyly and hypoplastic fingernails have occurred only in the three cases reported from one family.

Anesthetic considerations

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.

Other condition to be considered

  • Blepharo-Cheilo-Dontic Syndrome: Very similar syndrome often mistaken for the Korula-Wilson-Salomon Syndrome. It is characterized by facial features that include cleft lip and/or palate, lagophthalmia, euryblepharon, ectropion of lower eyelids, distichiasis, hypertelorism, abnormal teeth, and oligodontia. It is inherited as an autosomal dominant with variable expression. It can also be found sporadically or with positive family history.


Ababneh  FK, Al-Swaid  A, Elhag  A, Youssef  T, Alsaif  S: Blepharo-cheilo-dontic (BCD) syndrome: Expanding the phenotype, case report and review of literature. Am J Med Genet A 164A(6):1525–1529, 2014.  [PubMed: 24719364]
Gorlin  RJ, Zellweger  H, Curtis  MW,  et al: Blepharo-cheilo-dontic (BCD) syndrome. Am J Med Genet 65:109, 1996.  [PubMed: 8911600]
Iida  A, Narai  S, Takagi  R, Ono  K, Ikeda  N: Blepharo-cheilo-dontic (BCD) syndrome: Case report. Cleft Palate Craniofac J 43(2):237–243, 2006.  [PubMed: 16526930]
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]
Velez  JP: Blepharo-Cheilo-Dontic syndrome. First case in Ecuador. Rare Diseases and Orphan Drugs 3:3, ...

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