Cryptophthalmos--syndactyly syndrome without cryptophthalmos.
Based on a personal observation and a review of the literature five cases with the so-called cryptophthalmos-syndactyly syndrome but without cryptophthalmos are presented. It appears that eye lesions are non-obligatory components of a pleomorphic condition which may be overlooked in the absence of the name-giving anomaly. The diagnosis of the cryptophthalmos-syndactyly syndrome must be considered in patients with a combination of acrofacial and urogenital malformations with or without cryptophthalmos.
D000015:Abnormalities, Multiple / Q000235:genetics; D005124:Eye Abnormalities; D005260:Female; D005385:Fingers / Q000002:abnormalities*; D006801:Humans; D007231:Infant, Newborn; D007668:Kidney / Q000002:abnormalities; D013577:Syndrome; D014034:Toes / Q000002:abnormalities*