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.