The nasopalpebral lipoma-coloboma syndrome: a new autosomal dominant dysplasia-malformation syndrome with congenital nasopalpebral lipomas, eyelid colobomas, telecanthus, and maxillary hypoplasia.
We describe a new autosomal dominant dysplasia-malformation syndrome from eight affected individuals in three generations of a Venezuelan family. It is characterized by congenital symmetrical upper lid and nasopalpebral lipomas, bilateral symmetrical upper and lower palpebral colobomas located at the junction of the inner and middle thirds of the lids, telecanthus, and maxillary hypoplasia. Affected individuals have a broad forehead, window's peak, abnormal pattern of eyebrows and eyelashes, and maldevelopment of the lacrimal punctae. Interorbital distance is normal, but interpupillary distance is increased due to divergent strabismus originating from visual interference from inner canthal masses. Persistent epiphora, conjunctival hyperemia, and corneal (and less frequently lens) opacities are a secondary consequence of the defect of the lacrimal punctae and the inability to close the lids completely. The syndrome has complete penetrance and a rather narrow range of expressivity. The primary defect could involve a dysplasia of adipose tissue leading to nasopalpebral and upper lid lipomas during embryogenesis, with the rest of the malformations being secondary to interference of morphogenesis of the mid-upperface developmental field from the lipomatous hamartomas. Alternatively, a central rather than a peripheral mechanism of malformation might be considered, such as defective migration of neural crest cells.
D000015:Abnormalities, Multiple / Q000235:genetics; D000293:Adolescent; D000328:Adult; D000368:Aged; D002648:Child; D002675:Child, Preschool; D003103:Coloboma / Q000235:genetics*; D003394:Craniofacial Dysostosis / Q000235:genetics*; D005138:Eyebrows / Q000002:abnormalities; D005142:Eyelid Neoplasms / Q000235:genetics*; D005143:Eyelids / Q000002:abnormalities*; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D007223:Infant; D008068:Lipomatosis / Q000235:genetics*; D008297:Male; D008437:Maxilla / Q000002:abnormalities; D010375:Pedigree