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Multiple plantar creases

MedGen UID:
350528
Concept ID:
C1861873
Finding
HPO: HP:0008113

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVMultiple plantar creases

Conditions with this feature

Cardio-facio-cutaneous syndrome
MedGen UID:
266149
Concept ID:
C1275081
Disease or Syndrome
Cardiofaciocutaneous (CFC) syndrome is characterized by cardiac abnormalities (pulmonic stenosis and other valve dysplasias, septal defects, hypertrophic cardiomyopathy, rhythm disturbances), distinctive craniofacial appearance, and cutaneous abnormalities (including xerosis, hyperkeratosis, ichthyosis, keratosis pilaris, ulerythema ophryogenes, eczema, pigmented moles, hemangiomas, and palmoplantar hyperkeratosis). The hair is typically sparse, curly, fine or thick, woolly or brittle; eyelashes and eyebrows may be absent or sparse. Nails may be dystrophic or fast growing. Some form of neurologic and/or cognitive delay (ranging from mild to severe) is seen in all affected individuals. Neoplasia, mostly acute lymphoblastic leukemia, has been reported in some individuals.

Recent clinical studies

Etiology

Ornelas-Arana ML, Pérez-Garcia G, Robles-Espinoza CD, Rangel-Sosa MM, Castaneda-Garcia C, Juárez-Vázquez CI, López-Pérez LG, Pérez-Ornelas C, Hernández-Zaragoza G, Lara-Aguilar RA, Córdova-Fletes C
Cytogenet Genome Res 2020;160(10):579-588. Epub 2020 Nov 5 doi: 10.1159/000511234. PMID: 33152732
Basaran SY, Sensoy V, Kiroglu K, Messiaen L, Tuysuz B
Genet Couns 2010;21(3):307-16. PMID: 20964122
Butler MG, Mangrum T, Gupta R, Singh DN
Clin Genet 1991 May;39(5):347-54. doi: 10.1111/j.1399-0004.1991.tb03041.x. PMID: 1860251Free PMC Article
Young RS, Weaver DD, Kukolich MK, Heerema NA, Palmer CG, Kawira EL, Bender HA
Am J Med Genet 1984 Feb;17(2):437-50. doi: 10.1002/ajmg.1320170207. PMID: 6199974

Diagnosis

Lloreda-Garcia JM, Pina-Molina JM, Fernández-Fructuoso JR
J Pediatr 2018 Oct;201:292. Epub 2018 Jun 25 doi: 10.1016/j.jpeds.2018.05.045. PMID: 29954608
Madhukara J, Kumaran MS
Indian J Dermatol Venereol Leprol 2007 Nov-Dec;73(6):406-8. doi: 10.4103/0378-6323.37059. PMID: 18032860
Cakir M, Arici C, Tacoy S, Karayalcin U
Am J Med Genet A 2004 Jan 15;124A(2):196-9. doi: 10.1002/ajmg.a.20361. PMID: 14699620
Butler MG, Mangrum T, Gupta R, Singh DN
Clin Genet 1991 May;39(5):347-54. doi: 10.1111/j.1399-0004.1991.tb03041.x. PMID: 1860251Free PMC Article
Lai CC, Gorlin RJ
Clin Orthop Relat Res 1975 Jul-Aug;(110):238-43. PMID: 1157389

Therapy

Ornelas-Arana ML, Pérez-Garcia G, Robles-Espinoza CD, Rangel-Sosa MM, Castaneda-Garcia C, Juárez-Vázquez CI, López-Pérez LG, Pérez-Ornelas C, Hernández-Zaragoza G, Lara-Aguilar RA, Córdova-Fletes C
Cytogenet Genome Res 2020;160(10):579-588. Epub 2020 Nov 5 doi: 10.1159/000511234. PMID: 33152732

Prognosis

Ornelas-Arana ML, Pérez-Garcia G, Robles-Espinoza CD, Rangel-Sosa MM, Castaneda-Garcia C, Juárez-Vázquez CI, López-Pérez LG, Pérez-Ornelas C, Hernández-Zaragoza G, Lara-Aguilar RA, Córdova-Fletes C
Cytogenet Genome Res 2020;160(10):579-588. Epub 2020 Nov 5 doi: 10.1159/000511234. PMID: 33152732
Dettmer M, Itin P, Miny P, Gandhi M, Cathomas G, Willi N
Diagn Pathol 2011 Aug 10;6:75. doi: 10.1186/1746-1596-6-75. PMID: 21831298Free PMC Article
Basaran SY, Sensoy V, Kiroglu K, Messiaen L, Tuysuz B
Genet Couns 2010;21(3):307-16. PMID: 20964122
Boente MC, Carrero-Valenzuela RD, Frontini MV, Asial RA
Eur J Dermatol 2001 Sep-Oct;11(5):453-7. PMID: 11525956
Butler MG, Mangrum T, Gupta R, Singh DN
Clin Genet 1991 May;39(5):347-54. doi: 10.1111/j.1399-0004.1991.tb03041.x. PMID: 1860251Free PMC Article

Clinical prediction guides

Ornelas-Arana ML, Pérez-Garcia G, Robles-Espinoza CD, Rangel-Sosa MM, Castaneda-Garcia C, Juárez-Vázquez CI, López-Pérez LG, Pérez-Ornelas C, Hernández-Zaragoza G, Lara-Aguilar RA, Córdova-Fletes C
Cytogenet Genome Res 2020;160(10):579-588. Epub 2020 Nov 5 doi: 10.1159/000511234. PMID: 33152732
Mori MA, Lapunzina P, Delicado A, Núñez G, Rodríguez JI, de Torres ML, Herrero F, Valverde E, López-Pajares I
Am J Med Genet A 2004 May 15;127A(1):69-73. doi: 10.1002/ajmg.a.20622. PMID: 15103721
Cakir M, Arici C, Tacoy S, Karayalcin U
Am J Med Genet A 2004 Jan 15;124A(2):196-9. doi: 10.1002/ajmg.a.20361. PMID: 14699620
Mori M, Yamagata T, Mori Y, Nokubi M, Saito K, Fukushima Y, Momoi MY
Am J Med Genet 1996 Feb 2;61(4):304-9. doi: 10.1002/(SICI)1096-8628(19960202)61:4<304::AID-AJMG2>3.0.CO;2-U. PMID: 8834040
Butler MG, Mangrum T, Gupta R, Singh DN
Clin Genet 1991 May;39(5):347-54. doi: 10.1111/j.1399-0004.1991.tb03041.x. PMID: 1860251Free PMC Article

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