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Dermatoglyphic variants

MedGen UID:
870662
Concept ID:
C4025116
Anatomical Abnormality
HPO: HP:0005882

Conditions with this feature

Chromosome 9p deletion syndrome
MedGen UID:
167073
Concept ID:
C0795830
Disease or Syndrome
A rare chromosomal anomaly with characteristics of psychomotor developmental delay, facial dysmorphism (trigonocephaly, midface hypoplasia, upslanting palpebral fissures, dysplastic small ears, flat nasal bridge with anteverted nostrils and long philtrum, micrognathia, choanal atresia, short neck), single umbilical artery, omphalocele, inguinal or umbilical hernia, genital abnormalities (hypospadia, cryptorchidism), muscular hypotonia and scoliosis.

Recent clinical studies

Etiology

Li J, Glover JD, Zhang H, Peng M, Tan J, Mallick CB, Hou D, Yang Y, Wu S, Liu Y, Peng Q, Zheng SC, Crosse EI, Medvinsky A, Anderson RA, Brown H, Yuan Z, Zhou S, Xu Y, Kemp JP, Ho YYW, Loesch DZ, Wang L, Li Y, Tang S, Wu X, Walters RG, Lin K, Meng R, Lv J, Chernus JM, Neiswanger K, Feingold E, Evans DM, Medland SE, Martin NG, Weinberg SM, Marazita ML, Chen G, Chen Z, Zhou Y, Cheeseman M, Wang L, Jin L, Headon DJ, Wang S
Cell 2022 Jan 6;185(1):95-112.e18. doi: 10.1016/j.cell.2021.12.008. PMID: 34995520Free PMC Article
Rajasekaran A, Shivakumar V, Kalmady SV, Parlikar R, Chhabra H, Prabhu A, Subbanna M, Venugopal D, Amaresha AC, Agarwal SM, Bose A, Narayanaswamy JC, Debnath M, Venkatasubramanian G
Asian J Psychiatr 2020 Dec;54:102363. Epub 2020 Aug 25 doi: 10.1016/j.ajp.2020.102363. PMID: 33271685
Todd ES, Scott NM, Weese-Mayer DE, Weinberg SM, Berry-Kravis EM, Silvestri JM, Kenny AS, Hauptman SA, Zhou L, Marazita ML
Pediatrics 2006 Aug;118(2):e408-14. doi: 10.1542/peds.2005-3134. PMID: 16882781
Der Kaloustian VM, Naffah J, Loiselet J
Am J Med Genet 1980;7(2):187-203. doi: 10.1002/ajmg.1320070212. PMID: 7468647
Dar H, Schmidt R, Nitowsky HM
Pediatr Res 1977 Feb;11(2):103-8. doi: 10.1203/00006450-197702000-00004. PMID: 138837

Diagnosis

Gooch C, Souder JP, Tedder ML, Kerkhof J, Lee JA, Louie RJ, Sadikovic B, Fletcher RS, Robin NH
Am J Med Genet A 2022 May;188(5):1550-1555. Epub 2022 Jan 18 doi: 10.1002/ajmg.a.62652. PMID: 35040536Free PMC Article
Mattison SM, Brunson EK, Holman DJ
Coll Antropol 2015 Sep;39(3):769-74. PMID: 26898079
Micale L, Augello B, Fusco C, Selicorni A, Loviglio MN, Silengo MC, Reymond A, Gumiero B, Zucchetti F, D'Addetta EV, Belligni E, Calcagnì A, Digilio MC, Dallapiccola B, Faravelli F, Forzano F, Accadia M, Bonfante A, Clementi M, Daolio C, Douzgou S, Ferrari P, Fischetto R, Garavelli L, Lapi E, Mattina T, Melis D, Patricelli MG, Priolo M, Prontera P, Renieri A, Mencarelli MA, Scarano G, della Monica M, Toschi B, Turolla L, Vancini A, Zatterale A, Gabrielli O, Zelante L, Merla G
Orphanet J Rare Dis 2011 Jun 9;6:38. doi: 10.1186/1750-1172-6-38. PMID: 21658225Free PMC Article
Butler MG, Meaney FJ, Palmer CG
Am J Med Genet 1986 Mar;23(3):793-809. doi: 10.1002/ajmg.1320230307. PMID: 3953677Free PMC Article
Dar H, Schmidt R, Nitowsky HM
Pediatr Res 1977 Feb;11(2):103-8. doi: 10.1203/00006450-197702000-00004. PMID: 138837

Therapy

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
Borja T, Karim N, Goecker Z, Salemi M, Phinney B, Naeem M, Rice R, Parker G
Forensic Sci Int Genet 2019 Sep;42:21-30. Epub 2019 May 28 doi: 10.1016/j.fsigen.2019.05.005. PMID: 31212206
Mattison SM, Brunson EK, Holman DJ
Coll Antropol 2015 Sep;39(3):769-74. PMID: 26898079
Benderlioglu Z, Nelson RJ
Horm Behav 2004 Dec;46(5):558-64. doi: 10.1016/j.yhbeh.2004.06.004. PMID: 15555497
Dar H, Schmidt R, Nitowsky HM
Pediatr Res 1977 Feb;11(2):103-8. doi: 10.1203/00006450-197702000-00004. PMID: 138837

Prognosis

Micale L, Augello B, Fusco C, Selicorni A, Loviglio MN, Silengo MC, Reymond A, Gumiero B, Zucchetti F, D'Addetta EV, Belligni E, Calcagnì A, Digilio MC, Dallapiccola B, Faravelli F, Forzano F, Accadia M, Bonfante A, Clementi M, Daolio C, Douzgou S, Ferrari P, Fischetto R, Garavelli L, Lapi E, Mattina T, Melis D, Patricelli MG, Priolo M, Prontera P, Renieri A, Mencarelli MA, Scarano G, della Monica M, Toschi B, Turolla L, Vancini A, Zatterale A, Gabrielli O, Zelante L, Merla G
Orphanet J Rare Dis 2011 Jun 9;6:38. doi: 10.1186/1750-1172-6-38. PMID: 21658225Free PMC Article
Benderlioglu Z, Nelson RJ
Horm Behav 2004 Dec;46(5):558-64. doi: 10.1016/j.yhbeh.2004.06.004. PMID: 15555497
Tsukahara M, Okabe T, Ohtsuka M, Furukawa S
Am J Med Genet 1995 Jul 3;57(3):444-6. doi: 10.1002/ajmg.1320570316. PMID: 7677148

Clinical prediction guides

Nkansah EO, Ahenkorah J, Adutwum-Ofosu K, Adjei RL, Adu-Aryee NA, Tagoe EA, Koney NK, Aryee NA, Hottor BA, Blay RM, Clegg-Lamptey JN, Arko-Boham B
Pan Afr Med J 2022;43:209. Epub 2022 Dec 28 doi: 10.11604/pamj.2022.43.209.33136. PMID: 36942145Free PMC Article
Mattison SM, Brunson EK, Holman DJ
Coll Antropol 2015 Sep;39(3):769-74. PMID: 26898079
Micale L, Augello B, Fusco C, Selicorni A, Loviglio MN, Silengo MC, Reymond A, Gumiero B, Zucchetti F, D'Addetta EV, Belligni E, Calcagnì A, Digilio MC, Dallapiccola B, Faravelli F, Forzano F, Accadia M, Bonfante A, Clementi M, Daolio C, Douzgou S, Ferrari P, Fischetto R, Garavelli L, Lapi E, Mattina T, Melis D, Patricelli MG, Priolo M, Prontera P, Renieri A, Mencarelli MA, Scarano G, della Monica M, Toschi B, Turolla L, Vancini A, Zatterale A, Gabrielli O, Zelante L, Merla G
Orphanet J Rare Dis 2011 Jun 9;6:38. doi: 10.1186/1750-1172-6-38. PMID: 21658225Free PMC Article
Butler MG, Meaney FJ, Palmer CG
Am J Med Genet 1986 Mar;23(3):793-809. doi: 10.1002/ajmg.1320230307. PMID: 3953677Free PMC Article
Dar H, Schmidt R, Nitowsky HM
Pediatr Res 1977 Feb;11(2):103-8. doi: 10.1203/00006450-197702000-00004. PMID: 138837

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