Disease or Syndrome
Cryptophthalmos syndrome
Subclass of:
Multiple congenital anomalies; Urogenital Abnormalities; Eye Abnormalities; Syndactyly
Definitions related to cryptophthalmos syndrome:
  • (fraser syndrome) A rare clinical entity including as main characteristics cryptophthalmos and syndactyly.
    OrphaNet
    INSERM, 2021
  • (fraser syndrome) A rare, autosomal recessive inherited disorder caused by mutations in the FRAS1, FREM2, or GRIP1 genes. It is characterized by the presence of cryptophthalmos, cutaneous syndactyly, and genitourinary abnormalities.
    NCI Thesaurus
    U.S. National Cancer Institute, 2021
  • (fraser syndrome) Rare autosomal recessive congenital malformation syndrome characterized by cryptophthalmos, SYNDACTYLY and UROGENITAL ABNORMALITIES. Other anomalies of bone, ear, lung, and nose are common. Mutations on FRAS1 and FREM2 are associated with the syndrome.
    NLM Medical Subject Headings
    U.S. National Library of Medicine, 2021
  • A rare, genetically heterogenous syndrome, characterized by cryptophthalmos, craniofacial abnormalities, urogenital abnormalities, and syndactyly.
    NCI Thesaurus
    U.S. National Cancer Institute, 2021
  • Fraser syndrome is a rare genetic disorder characterized by fused eyelids (cryptophthalmos), fusion of the skin between the fingers and toes (syndactyly), and abnormalities of the genitalia and urinary tract. Signs and symptoms occur early in development and may also include abnormalities of the respiratory tract, specifically involving...
    NIH Genetic and Rare Diseases
    National Center for Advancing Translational Sciences
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