Blepharocheilodontic Syndrome 1
Patient Information
Characteristics
Background and History
This is primarily a condition of the eyelids and oral cavity.
Clinical Correlations
The eyelids are excessively large which creates difficulties blinking normally. The edge of the lower lid turns outward, again creating problems with adequate coverage of the eyes during blinking. There is often a double row of lashes at the edge of the upper lid. The eyes appear far apart and the bridge of the nose appears widened.
Cleft lip and palate are common features. The teeth are small and conically shaped. Scalp hair is often sparse and the nails are not fully formed. Abnormal thyroid development and function have been reported and several infants have had an underdeveloped anus.
Genetics
Inheritance
This is an autosomal dominant disorder. Affected parents can expect that half of their offspring will be similarly affected.
Pedigree
Autosomal dominant
Autosomal dominant disorders require only one mutation for the disease to be expressed. Since an affected parent has two chromosomes, only one of which has the mutant gene, parents can expect that half (50%) of their children will receive that one and inherit the disease. It is common for individuals that inherit the mutation, however, to not have evidence of the disease (nonpenetrance).
Autosomal dominant inheritance leads to a vertical pattern of transmission
Diagnosis and Prognosis
The diagnosis can be made at birth based on the appearance of the face and eyelids combined with the presence of the cleft lip and palate. The teeth may erupt late but their appearance should confirm the diagnosis. Pediatricians and medical geneticists are likely to collaborate in the diagnosis. Treatment is directed toward correction of individual anomalies such as cleft lip/palate and eyelids. Dental evaluations are recommended. The prognosis is good.
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