Congenital Abnormality
ethmocephaly
ethmocepha·ly
Definitions related to ethmocephaly:
  • A congenital abnormality characterized by the presence of holoprosencephaly, a proboscis, the absence of a nose and microphthalmic, close-set eyes.
    NCI Thesaurus
    U.S. National Cancer Institute, 2021
  • Ethmocephaly is the rarest form of holoprosencephaly, which occurs due to an incomplete cleavage of the forebrain. Clinically, the disease presents with a proboscis, hypotelorism, microphthalmos and malformed ears.
    Human Phenotype Ontology (HPO)
    The Human Phenotype Ontology Project, 2021
  • Some degree of cyclopia in which the eyes may be closely set but the snout is small. (Makris S, Solomon HM, Clark R, Shiota K, Barbellion S, Buschmann J, Ema M, Fujiwara M, Grote K, Hazelden KP, Hew KW, Horimoto M, Ooshima Y, Parkinson M, Wise LD. Terminology of developmental abnormalities in common laboratory mammals (Version 2). Part B. Birth Defects Res B Dev Reprod Toxicol. 2009 Aug;86(4):227-327.)
    CDISC Terminology
    Clinical Data Interchange Standards Consortium (CDISC), 2021
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