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Xu, R. Microcephaly-Capillary Malformation Syndrome. Encyclopedia. Available online: https://encyclopedia.pub/entry/4173 (accessed on 29 September 2026).
Xu R. Microcephaly-Capillary Malformation Syndrome. Encyclopedia. Available at: https://encyclopedia.pub/entry/4173. Accessed September 29, 2026.
Xu, Rita. "Microcephaly-Capillary Malformation Syndrome" Encyclopedia, https://encyclopedia.pub/entry/4173 (accessed September 29, 2026).
Xu, R. (2020, December 23). Microcephaly-Capillary Malformation Syndrome. In Encyclopedia. https://encyclopedia.pub/entry/4173
Xu, Rita. "Microcephaly-Capillary Malformation Syndrome." Encyclopedia. Web. 23 December, 2020.
Microcephaly-Capillary Malformation Syndrome
Edit
This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/microcephaly-capillary-malformation-syndrome

Microcephaly-capillary malformation syndrome is an inherited disorder characterized by an abnormally small head size (microcephaly) and abnormalities of small blood vessels in the skin called capillaries (capillary malformations).

genetic conditions

References

  1. Carter MT, Geraghty MT, De La Cruz L, Reichard RR, Boccuto L, Schwartz CE,Clericuzio CL. A new syndrome with multiple capillary malformations, intractable seizures, and brain and limb anomalies. Am J Med Genet A. 2011 Feb;155A(2):301-6.doi: 10.1002/ajmg.a.33841.
  2. Carter MT, Mirzaa G, McDonell LM, Boycott KM. Microcephaly-CapillaryMalformation Syndrome. 2013 Dec 12. In: Adam MP, Ardinger HH, Pagon RA, WallaceSE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle(WA): University of Washington, Seattle; 1993-2020. Available fromhttp://www.ncbi.nlm.nih.gov/books/NBK174452/
  3. Isidor B, Barbarot S, Bénéteau C, Le Caignec C, David A. Multiple capillaryskin malformations, epilepsy, microcephaly, mental retardation, hypoplasia of thedistal phalanges: report of a new case and further delineation of a new syndrome.Am J Med Genet A. 2011 Jun;155A(6):1458-60. doi: 10.1002/ajmg.a.34048.
  4. McDonell LM, Mirzaa GM, Alcantara D, Schwartzentruber J, Carter MT, Lee LJ,Clericuzio CL, Graham JM Jr, Morris-Rosendahl DJ, Polster T, Acsadi G, Townshend S, Williams S, Halbert A, Isidor B, David A, Smyser CD, Paciorkowski AR, Willing M, Woulfe J, Das S, Beaulieu CL, Marcadier J; FORGE Canada Consortium, GeraghtyMT, Frey BJ, Majewski J, Bulman DE, Dobyns WB, O'Driscoll M, Boycott KM.Mutations in STAMBP, encoding a deubiquitinating enzyme, causemicrocephaly-capillary malformation syndrome. Nat Genet. 2013 May;45(5):556-62.doi: 10.1038/ng.2602.
  5. Mirzaa GM, Paciorkowski AR, Smyser CD, Willing MC, Lind AC, Dobyns WB. Themicrocephaly-capillary malformation syndrome. Am J Med Genet A. 2011Sep;155A(9):2080-7. doi: 10.1002/ajmg.a.34118.
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Subjects: Genetics & Heredity
Contributor MDPI registered users' name will be linked to their SciProfiles pages. To register with us, please refer to https://encyclopedia.pub/register : Rita Xu
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Entry Collection: MedlinePlus
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Update Date: 23 Dec 2020
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