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MACRODACTYLY, SOMATIC

MedGen UID:
1662425
•Concept ID:
C4749056
•
Congenital Abnormality
OMIM®: 171834

Professional guidelines

PubMed

Work-Up and Treatment Strategies for Individuals with PIK3CA-Related Disorders: A Consensus of Experts from the Scientific Committee of the Italian Macrodactyly and PROS Association.
Gazzin A, Leoni C, Viscogliosi G, Borgini F, Perri L, Iacoviello M, Piglionica M, De Pellegrin M, Ferrero GB, Bartuli A, Zampino G, Buonuomo PS, Resta N, Mussa A; Italian Macrodactyly and PROS Association
Genes (Basel) 2023 Nov 27;14(12) doi: 10.3390/genes14122134. PMID: 38136956Free PMC Article
PIK3CA-related overgrowth spectrum (PROS): diagnostic and testing eligibility criteria, differential diagnosis, and evaluation.
Keppler-Noreuil KM, Rios JJ, Parker VE, Semple RK, Lindhurst MJ, Sapp JC, Alomari A, Ezaki M, Dobyns W, Biesecker LG
Am J Med Genet A 2015 Feb;167A(2):287-95. Epub 2014 Dec 31 doi: 10.1002/ajmg.a.36836. PMID: 25557259Free PMC Article

Recent clinical studies

Etiology

PIK3CA Mutational Analysis in Patients With Macrodactyly.
Becker J, Gross UC, Weber DM, Weibel L, Theiler M, Brandt S, Bode PK
Pediatr Dev Pathol 2022 Nov-Dec;25(6):624-634. Epub 2022 Oct 31 doi: 10.1177/10935266221080155. PMID: 36314082
Congenital difference of the hand and foot: Pediatric macrodactyly.
Shen XF, Gasteratos K, Spyropoulou GA, Yin F, Rui YJ
J Plast Reconstr Aesthet Surg 2022 Nov;75(11):4054-4062. Epub 2022 Jul 27 doi: 10.1016/j.bjps.2022.06.059. PMID: 36175329
Phenotypic and genetic spectrum of isolated macrodactyly: somatic mosaicism of PIK3CA and AKT1 oncogenic variants.
Tian W, Huang Y, Sun L, Guo Y, Zhao S, Lin M, Dong X, Zhong W, Yin Y, Chen Z, Zhang N, Zhang Y, Wang L, Lin J, Yan Z, Yang X, Zhao J, Qiu G, Zhang J, Wu Z, Wu N; (Deciphering Disorders Involving Scoliosis, COmorbidities) study group
Orphanet J Rare Dis 2020 Oct 14;15(1):288. doi: 10.1186/s13023-020-01572-9. PMID: 33054853Free PMC Article
Somatic mosaicism of the PIK3CA gene identified in a Hungarian girl with macrodactyly and syndactyly.
Tripolszki K, Knox R, Parker V, Semple R, Farkas K, Sulák A, Horváth E, Széll M, Nagy N
Eur J Med Genet 2016 Apr;59(4):223-6. Epub 2016 Feb 3 doi: 10.1016/j.ejmg.2016.02.002. PMID: 26851524
PIK3CA-related overgrowth spectrum (PROS): diagnostic and testing eligibility criteria, differential diagnosis, and evaluation.
Keppler-Noreuil KM, Rios JJ, Parker VE, Semple RK, Lindhurst MJ, Sapp JC, Alomari A, Ezaki M, Dobyns W, Biesecker LG
Am J Med Genet A 2015 Feb;167A(2):287-95. Epub 2014 Dec 31 doi: 10.1002/ajmg.a.36836. PMID: 25557259Free PMC Article

Diagnosis

Work-Up and Treatment Strategies for Individuals with PIK3CA-Related Disorders: A Consensus of Experts from the Scientific Committee of the Italian Macrodactyly and PROS Association.
Gazzin A, Leoni C, Viscogliosi G, Borgini F, Perri L, Iacoviello M, Piglionica M, De Pellegrin M, Ferrero GB, Bartuli A, Zampino G, Buonuomo PS, Resta N, Mussa A; Italian Macrodactyly and PROS Association
Genes (Basel) 2023 Nov 27;14(12) doi: 10.3390/genes14122134. PMID: 38136956Free PMC Article
Congenital difference of the hand and foot: Pediatric macrodactyly.
Shen XF, Gasteratos K, Spyropoulou GA, Yin F, Rui YJ
J Plast Reconstr Aesthet Surg 2022 Nov;75(11):4054-4062. Epub 2022 Jul 27 doi: 10.1016/j.bjps.2022.06.059. PMID: 36175329
PIK3CA-related overgrowth spectrum (PROS): diagnostic and testing eligibility criteria, differential diagnosis, and evaluation.
Keppler-Noreuil KM, Rios JJ, Parker VE, Semple RK, Lindhurst MJ, Sapp JC, Alomari A, Ezaki M, Dobyns W, Biesecker LG
Am J Med Genet A 2015 Feb;167A(2):287-95. Epub 2014 Dec 31 doi: 10.1002/ajmg.a.36836. PMID: 25557259Free PMC Article
Radiologic manifestations of Proteus syndrome.
Jamis-Dow CA, Turner J, Biesecker LG, Choyke PL
Radiographics 2004 Jul-Aug;24(4):1051-68. doi: 10.1148/rg.244035726. PMID: 15256628
Vascular anomalies in Proteus syndrome.
Hoeger PH, Martinez A, Maerker J, Harper JI
Clin Exp Dermatol 2004 May;29(3):222-30. doi: 10.1111/j.1365-2230.2004.01513.x. PMID: 15115498

Therapy

Clinical report: one year of treatment of Proteus syndrome with miransertib (ARQ 092).
Biesecker LG, Edwards M, O'Donnell S, Doherty P, MacDougall T, Tith K, Kazakin J, Schwartz B
Cold Spring Harb Mol Case Stud 2020 Feb;6(1) Epub 2020 Feb 3 doi: 10.1101/mcs.a004549. PMID: 32014856Free PMC Article
Overgrowth Syndromes Caused by Somatic Variants in the Phosphatidylinositol 3-Kinase/AKT/Mammalian Target of Rapamycin Pathway.
Akgumus G, Chang F, Li MM
J Mol Diagn 2017 Jul;19(4):487-497. Epub 2017 May 11 doi: 10.1016/j.jmoldx.2017.04.001. PMID: 28502730
Vascular anomalies in Proteus syndrome.
Hoeger PH, Martinez A, Maerker J, Harper JI
Clin Exp Dermatol 2004 May;29(3):222-30. doi: 10.1111/j.1365-2230.2004.01513.x. PMID: 15115498

Prognosis

Phenotypic progression of skeletal anomalies in CLOVES syndrome.
Klein S, Stroberg A, Ghahremani S, Martinez-Agosto JA
Am J Med Genet A 2012 Jul;158A(7):1690-5. Epub 2012 May 24 doi: 10.1002/ajmg.a.35383. PMID: 22628280

Clinical prediction guides

Phenotypic progression of skeletal anomalies in CLOVES syndrome.
Klein S, Stroberg A, Ghahremani S, Martinez-Agosto JA
Am J Med Genet A 2012 Jul;158A(7):1690-5. Epub 2012 May 24 doi: 10.1002/ajmg.a.35383. PMID: 22628280
Vascular anomalies in Proteus syndrome.
Hoeger PH, Martinez A, Maerker J, Harper JI
Clin Exp Dermatol 2004 May;29(3):222-30. doi: 10.1111/j.1365-2230.2004.01513.x. PMID: 15115498

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