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
Korula S, Wilson L, Salomonson J: Distinct craniofacial syndrome of
lagophthalmia and bilateral cleft lip and palate. Am J Med Genet