Cryptophthalmos--syndactyly syndrome without cryptophthalmos

Clin Genet. 1986 May;29(5):413-6. doi: 10.1111/j.1399-0004.1986.tb00513.x.


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.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics
  • Eye Abnormalities*
  • Female
  • Fingers / abnormalities*
  • Humans
  • Infant, Newborn
  • Kidney / abnormalities
  • Syndrome
  • Toes / abnormalities*