Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Review

Holoprosencephaly Overview

Cedrik Tekendo-Ngongang  1 , Maximilian Muenke  2 , Paul Kruszka  1
Margaret P Adam, Jerry Feldman, Ghayda M Mirzaa, Roberta A Pagon, Stephanie E Wallace, Anne Amemiya
, editors.
In: GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993.
[updated ].
Affiliations
Free Books & Documents
Review

Holoprosencephaly Overview

Cedrik Tekendo-Ngongang et al.
Free Books & Documents

Excerpt

The purpose of this overview is to:

  1. 1

    Describe the clinical characteristics of holoprosencephaly;

  2. 2

    Review the genetic causes of holoprosencephaly;

  3. 3

    Provide an evaluation strategy to identify (when possible) the genetic cause of holoprosencephaly in a proband;

  4. 4

    Inform genetic counseling of family members of an individual with holoprosencephaly.

PubMed Disclaimer

Similar articles

  • Congenital Diaphragmatic Hernia Overview.
    Longoni M, Pober BR, High FA. Longoni M, et al. 2006 Feb 1 [updated 2020 Nov 5]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. 2006 Feb 1 [updated 2020 Nov 5]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. PMID: 20301533 Free Books & Documents. Review.
  • Cornelia de Lange Syndrome.
    Deardorff MA, Noon SE, Krantz ID. Deardorff MA, et al. 2005 Sep 16 [updated 2020 Oct 15]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. 2005 Sep 16 [updated 2020 Oct 15]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. PMID: 20301283 Free Books & Documents. Review.
  • PPP1R12A-Related Urogenital and/or Brain Malformation Syndrome.
    Alkhunaizi E, Chitayat D. Alkhunaizi E, et al. 2021 Sep 9 [updated 2024 Mar 7]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. 2021 Sep 9 [updated 2024 Mar 7]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. PMID: 34499436 Free Books & Documents. Review.
  • Leukodystrophy Overview – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY.
    Vanderver A, Tonduti D, Schiffmann R, Schmidt J, van der Knaap MS. Vanderver A, et al. 2014 Feb 6. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. 2014 Feb 6. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. PMID: 24501781 Free Books & Documents. Review.
  • Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency.
    Balasubramanian R, Crowley WF Jr. Balasubramanian R, et al. 2007 May 23 [updated 2022 May 12]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. 2007 May 23 [updated 2022 May 12]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. PMID: 20301509 Free Books & Documents. Review.
See all similar articles

References

    1. Alghamdi M, Alkhamis WH, Jamjoom D, Al-Nafisah G, Tahir A, Abdouelhoda M. Expanding the phenotype and the genotype of Stromme syndrome: A novel variant of the CENPF gene and literature review. Eur J Med Genet. 2020;63:103844. - PubMed
    1. Aoi H, Lei M, Mizuguchi T, Nishioka N, Goto T, Miyama S, Suzuki T, Iwama K, Uchiyama Y, Mitsuhashi S, Itakura A, Takeda S, Matsumoto N. Nonsense variants in STAG2 result in distinct sex-dependent phenotypes. J Hum Genet. 2019;64:487-92. - PubMed
    1. Arauz RF, Solomon BD, Pineda-Alvarez DE, Gropman AL, Parsons JA, Roessler E, Muenke M. A Hypomorphic allele in the FGF8 gene contributes to holoprosencephaly and is allelic to gonadotropin-releasing hormone deficiency in humans. Mol Syndromol. 2010;1:59-66. - PMC - PubMed
    1. Bae GU, Domené S, Roessler E, Schachter K, Kang JS, Muenke M, Krauss RS. Mutations in CDON, encoding a hedgehog receptor, result in holoprosencephaly and defective interactions with other hedgehog receptors. Am J Hum Genet. 2011;89:231-40. - PMC - PubMed
    1. Bear KA, Solomon BD, Antonini S, Arnhold IJ, França MM, Gerkes EH, Grange DK, Hadley DW, Jääskeläinen J, Paulo SS, Rump P, Stratakis CA, Thompson EM, Willis M, Winder TL, Jorge AA, Roessler E, Muenke M. Pathogenic mutations in GLI2 cause a specific phenotype that is distinct from holoprosencephaly. J Med Genet. 2014;51:413-8. - PMC - PubMed

LinkOut - more resources