U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Cebocephaly

MedGen UID:
452351
•Concept ID:
C0266679
•
Congenital Abnormality
Synonym: Cebocephalus
SNOMED CT: Cebocephalus (204052006); Cebocephaly (204052006)

Definition

A congenital abnormality characterized by a malformation of the head. The eyes are hypoteleric and the nose may be absent or misshapen (small, flattened, single nostril) and defective. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCebocephaly

Professional guidelines

PubMed

Prenatal diagnosis of alobar holoprosencephaly by two-dimensional and three-dimensional ultrasound.
Lai TH, Chang CH, Yu CH, Kuo PL, Chang FM
Prenat Diagn 2000 May;20(5):400-3. doi: 10.1002/(sici)1097-0223(200005)20:5<400::aid-pd839>3.0.co;2-l. PMID: 10820408

Recent clinical studies

Etiology

Prenatal diagnosis and molecular cytogenetic characterization of a derivative chromosome der(18;18)(q10;q10)del(18)(q11.1q12.1)del(18)(q22.1q22.3) presenting as apparent isochromosome 18q in a fetus with holoprosencephaly.
Chen CP, Kuo YK, Su YN, Chern SR, Tsai FJ, Wu PC, Chen YT, Town DD, Wang W
Taiwan J Obstet Gynecol 2011 Jun;50(2):182-7. doi: 10.1016/j.tjog.2011.04.001. PMID: 21791305
Clinical epidemiologic study of holoprosencephaly in South America.
Orioli IM, Castilla EE
Am J Med Genet A 2007 Dec 15;143A(24):3088-99. doi: 10.1002/ajmg.a.32104. PMID: 17987642
The facial profile in the diagnosis of fetal abnormalities.
Turner GM, Twining P
Clin Radiol 1993 Jun;47(6):389-95. doi: 10.1016/s0009-9260(05)81058-x. PMID: 8519144
Sonography of facial features of alobar and semilobar holoprosencephaly.
McGahan JP, Nyberg DA, Mack LA
AJR Am J Roentgenol 1990 Jan;154(1):143-8. doi: 10.2214/ajr.154.1.2104699. PMID: 2104699
Perspectives on holoprosencephaly: Part I. Epidemiology, genetics, and syndromology.
Cohen MM Jr
Teratology 1989 Sep;40(3):211-35. doi: 10.1002/tera.1420400304. PMID: 2688166

Diagnosis

Alobar holoprosencephaly associated with a rare chromosomal abnormality: Case report and literature review.
Ionescu CA, Calin D, Navolan D, Matei A, Dimitriu M, Herghelegiu C, Ples L
Medicine (Baltimore) 2018 Jul;97(29):e11521. doi: 10.1097/MD.0000000000011521. PMID: 30024536Free PMC Article
Semilobar holoprosencephaly with cebocephaly associated with maternal early onset preeclampsia: a case report.
Essa AA, Feleke LA, Ahmed DM
J Med Case Rep 2018 Jul 7;12(1):207. doi: 10.1186/s13256-018-1647-6. PMID: 29980223Free PMC Article
Clinical epidemiologic study of holoprosencephaly in South America.
Orioli IM, Castilla EE
Am J Med Genet A 2007 Dec 15;143A(24):3088-99. doi: 10.1002/ajmg.a.32104. PMID: 17987642
Prenatal diagnosis of de novo proximal interstitial deletion of 14q associated with cebocephaly.
Chen CP, Lee CC, Chen LF, Chuang CY, Jan SW, Chen BF
J Med Genet 1997 Sep;34(9):777-8. doi: 10.1136/jmg.34.9.777. PMID: 9321769Free PMC Article
Prenatal ultrasonographic diagnosis of holoprosencephaly. Two cases of cebocephaly and two of cyclopia.
Schinzel A, Savoldelli G, Briner J, Schmid W
Arch Gynecol 1984;236(1):47-53. doi: 10.1007/BF02114868. PMID: 6391395

Prognosis

Semilobar holoprosencephaly with cebocephaly associated with maternal early onset preeclampsia: a case report.
Essa AA, Feleke LA, Ahmed DM
J Med Case Rep 2018 Jul 7;12(1):207. doi: 10.1186/s13256-018-1647-6. PMID: 29980223Free PMC Article
Airway management in an infant with alobar holoprosencephaly and cebocephaly associated with maternal diabetes mellitus.
Petersson RS, Carey WA, Thompson DM
Ear Nose Throat J 2013 Apr-May;92(4-5):215-8. doi: 10.1177/014556131309200416. PMID: 23599105
Alobar holoprosencephaly associated with cebocephaly and craniosynostosis.
Lin CH, Tsai JD, Ho YJ, Lin WC
Acta Neurol Taiwan 2009 Jun;18(2):123-6. PMID: 19673365
Exploring 3-dimensional imaging techniques in the prenatal interrogation of cebocephaly.
Allen LM, Silverman RK, Nosovitch JT, Lohnes TM, Williams KD
J Ultrasound Med 2008 Jun;27(6):983-8. doi: 10.7863/jum.2008.27.6.983. PMID: 18499861
A case of holoprosencephaly and cebocephaly associated to torch infection.
Kilic N, Yazici Z
Int J Pediatr Otorhinolaryngol 2005 Sep;69(9):1275-8. Epub 2005 Apr 22 doi: 10.1016/j.ijporl.2005.03.018. PMID: 16061113

Clinical prediction guides

Musculoskeletal study of cebocephalic and cyclopic lamb heads illuminates links between normal and abnormal development, evolution and human pathologies.
Diogo R, Razmadze D, Siomava N, Douglas N, Fuentes JSM, Duerinckx A
Sci Rep 2019 Jan 30;9(1):991. doi: 10.1038/s41598-018-37735-9. PMID: 30700788Free PMC Article
Alobar holoprosencephaly associated with a rare chromosomal abnormality: Case report and literature review.
Ionescu CA, Calin D, Navolan D, Matei A, Dimitriu M, Herghelegiu C, Ples L
Medicine (Baltimore) 2018 Jul;97(29):e11521. doi: 10.1097/MD.0000000000011521. PMID: 30024536Free PMC Article
Embryonic holoprosencephaly: pathology and phenotypic variability.
Yamada S
Congenit Anom (Kyoto) 2006 Dec;46(4):164-71. doi: 10.1111/j.1741-4520.2006.00123.x. PMID: 17096815
Holoprosencephaly and postaxial polydactyly with normal chromosomes. Another observation of a new malformation syndrome; a case report.
Ramaekers PR, Legius E, Verloes A, Gillerot Y, Vandenberghe K, Fryns JP
Eur J Obstet Gynecol Reprod Biol 1990 Jul-Aug;36(1-2):161-5. doi: 10.1016/0028-2243(90)90062-6. PMID: 2365121

Supplemental Content

Table of contents

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Related information

    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...