This is primarily a condition of the eyelids and oral cavity.
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.
This is an autosomal dominant disorder. Affected parents can expect that half of their offspring will be similarly affected.
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. The prognosis is good.