Hartsfield Syndrome

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Xu, C. Hartsfield Syndrome. Encyclopedia. Available online: https://encyclopedia.pub/entry/4055 (accessed on 14 September 2026).

Xu C. Hartsfield Syndrome. Encyclopedia. Available at: https://encyclopedia.pub/entry/4055. Accessed September 14, 2026.

Xu, Camila. "Hartsfield Syndrome" Encyclopedia, https://encyclopedia.pub/entry/4055 (accessed September 14, 2026).

Xu, C. (2020, December 23). Hartsfield Syndrome. In Encyclopedia. https://encyclopedia.pub/entry/4055

Xu, Camila. "Hartsfield Syndrome." Encyclopedia. Web. 23 December, 2020.

Hartsfield Syndrome

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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/hartsfield-syndrome

Hartsfield syndrome is a rare condition characterized by holoprosencephaly, which is an abnormality of brain development, and a malformation of the hands and feet called ectrodactyly.

genetic conditions

References

Dhamija R, Babovic-Vuksanovic D. Hartsfield Syndrome. 2016 Mar 3. In: Adam MP,Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors.GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle;1993-2020. Available from http://www.ncbi.nlm.nih.gov/books/NBK349073/
Dhamija R, Kirmani S, Wang X, Ferber MJ, Wieben ED, Lazaridis KN,Babovic-Vuksanovic D. Novel de novo heterozygous FGFR1 mutation in two siblingswith Hartsfield syndrome: a case of gonadal mosaicism. Am J Med Genet A. 2014Sep;164A(9):2356-9. doi: 10.1002/ajmg.a.36621.
Hong S, Hu P, Marino J, Hufnagel SB, Hopkin RJ, Toromanović A, Richieri-Costa A, Ribeiro-Bicudo LA, Kruszka P, Roessler E, Muenke M. Dominant-negative kinasedomain mutations in FGFR1 can explain the clinical severity of Hartsfieldsyndrome. Hum Mol Genet. 2016 May 15;25(10):1912-1922.
Prasad R, Brewer C, Burren CP. Hartsfield syndrome associated with a novelheterozygous missense mutation in FGFR1 and incorporating tumoral calcinosis. Am J Med Genet A. 2016 Aug;170(8):2222-5. doi: 10.1002/ajmg.a.37731.
Shi Y, Dhamija R, Wren C, Wang X, Babovic-Vuksanovic D, Spector E. Detectionof gonadal mosaicism in Hartsfield syndrome by next generation sequencing. Am JMed Genet A. 2016 Dec;170(12):3359. doi: 10.1002/ajmg.a.37869.
Simonis N, Migeotte I, Lambert N, Perazzolo C, de Silva DC, Dimitrov B,Heinrichs C, Janssens S, Kerr B, Mortier G, Van Vliet G, Lepage P, Casimir G,Abramowicz M, Smits G, Vilain C. FGFR1 mutations cause Hartsfield syndrome, theunique association of holoprosencephaly and ectrodactyly. J Med Genet. 2013Sep;50(9):585-92. doi: 10.1136/jmedgenet-2013-101603.
Vilain C, Mortier G, Van Vliet G, Dubourg C, Heinrichs C, de Silva D, Verloes A, Baumann C. Hartsfield holoprosencephaly-ectrodactyly syndrome in five malepatients: further delineation and review. Am J Med Genet A. 2009Jul;149A(7):1476-81. doi: 10.1002/ajmg.a.32678. Review.

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Subjects: Genetics & Heredity

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Entry Collection: MedlinePlus

Update Date: 23 Dec 2020

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