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Abnormality of the palmar creases

MedGen UID:
526186
Concept ID:
C0221199
Congenital Abnormality
Synonym: Abnormal palmar creases
SNOMED CT: Abnormal palmar creases (205557000)
 
HPO: HP:0010490

Definition

An abnormality of the creases of the skin of palm of hand. [from HPO]

Conditions with this feature

Neurooculocardiogenitourinary syndrome
MedGen UID:
1684841
Concept ID:
C5231443
Disease or Syndrome
Neurooculocardiogenitourinary syndrome (NOCGUS) is a multisystem disorder characterized by poor growth and anomalies of the ocular, craniofacial, neurologic, cardiovascular, genitourinary, skeletal, and gastrointestinal systems. Lethality before 2 years of age has been observed (Reis et al., 2019).
Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities
MedGen UID:
1794194
Concept ID:
C5561984
Disease or Syndrome
Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities (NECRC) is an autosomal dominant disorder characterized by dysmorphic craniofacial features associated with mild developmental delay, mildly impaired intellectual development or learning difficulties, speech delay, and behavioral abnormalities. About half of patients have congenital anomalies of the kidney and urinary tract (CAKUT) and/or congenital cardiac defects, including septal defects (Connaughton et al., 2020).

Professional guidelines

PubMed

Chatron N, Haddad V, Andrieux J, Désir J, Boute O, Dieux A, Baumann C, Drunat S, Gérard M, Bonnet C, Leheup B, Till M, Rossi M, Flori E, Alembik Y, Stewart H, McParland J, Bernardini L, Castelluccio P, Roos L, Tümer Z, Fagan K, Hackett A, Bain N, van Haeringen A, Ruivenkamp C, Benzacken B, Sanlaville D, Edery P, Aboura A, Schluth-Bolard C
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J Hand Surg Am 2010 Aug;35(8):1323-9. Epub 2010 Jul 16 doi: 10.1016/j.jhsa.2010.04.033. PMID: 20638200
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Recent clinical studies

Etiology

Khachnaoui-Zaafrane K, Ouertani I, Zanati A, Kandara H, Maazoul F, Mrad R
Eur J Med Genet 2022 Mar;65(3):104448. Epub 2022 Feb 9 doi: 10.1016/j.ejmg.2022.104448. PMID: 35150935
Kunc V, Štulpa M, Feigl G, Neblett C, Kunc V, Kachlík D
Surg Radiol Anat 2020 Aug;42(8):939-943. Epub 2020 Apr 24 doi: 10.1007/s00276-020-02475-x. PMID: 32333089
Habenicht R, Mann M, Guéro S, Ezaki M, Oberg KC
J Hand Surg Am 2019 May;44(5):421.e1-421.e8. Epub 2018 Oct 3 doi: 10.1016/j.jhsa.2018.07.011. PMID: 30292712
Nanno M, Kodera N, Tomori Y, Takai S
J Orthop Surg (Hong Kong) 2018 May-Aug;26(2):2309499018770914. doi: 10.1177/2309499018770914. PMID: 29716413
Tagliafico A, Pugliese F, Bianchi S, Bodner G, Padua L, Rubino M, Martinoli C
AJR Am J Roentgenol 2008 Jul;191(1):107-14. doi: 10.2214/AJR.07.3383. PMID: 18562732

Diagnosis

Wahl L, Dupont G, Tubbs RS
Clin Anat 2019 Nov;32(8):1042-1047. Epub 2019 Jul 25 doi: 10.1002/ca.23432. PMID: 31301248
Fölster-Holst R, Rohrer T, Jung AM
J Dtsch Dermatol Ges 2018 Oct;16(10):1289-1295. doi: 10.1111/ddg.13665. PMID: 30300491
Sun Y, Hu G, Liu H, Zhang X, Huang Z, Yan H, Wang L, Fan Y, Gu X, Yu Y
Am J Med Genet A 2017 Feb;173(2):510-514. Epub 2016 Oct 19 doi: 10.1002/ajmg.a.38025. PMID: 27759909
Wijerathne BT, Meier RJ, Agampodi SB
J Med Case Rep 2016 Sep 20;10(1):258. doi: 10.1186/s13256-016-1048-7. PMID: 27650795Free PMC Article
Madhukara J, Kumaran MS
Indian J Dermatol Venereol Leprol 2007 Nov-Dec;73(6):406-8. doi: 10.4103/0378-6323.37059. PMID: 18032860

Therapy

Pecimonova M, Radvanszky J, Smolak D, Budis J, Lichvar M, Kristinova D, Rozova I, Turna J, Szemes T
Medicine (Baltimore) 2021 Jun 4;100(22):e26136. doi: 10.1097/MD.0000000000026136. PMID: 34087865Free PMC Article
Kunc V, Štulpa M, Feigl G, Neblett C, Kunc V, Kachlík D
Surg Radiol Anat 2020 Aug;42(8):939-943. Epub 2020 Apr 24 doi: 10.1007/s00276-020-02475-x. PMID: 32333089
Stevenson RE, Vincent V, Spellicy CJ, Friez MJ, Chaubey A
Am J Med Genet A 2018 Sep;176(9):1968-1971. Epub 2018 Aug 16 doi: 10.1002/ajmg.a.40362. PMID: 30113773
Lee HS, Jones KL, Lee HK, Chambers CD
Am J Med Genet A 2016 Jan;170A(1):19-23. Epub 2015 Sep 17 doi: 10.1002/ajmg.a.37392. PMID: 26384109Free PMC Article
Dar H, Schmidt R, Nitowsky HM
Pediatr Res 1977 Feb;11(2):103-8. doi: 10.1203/00006450-197702000-00004. PMID: 138837

Prognosis

Kunc V, Štulpa M, Feigl G, Neblett C, Kunc V, Kachlík D
Surg Radiol Anat 2020 Aug;42(8):939-943. Epub 2020 Apr 24 doi: 10.1007/s00276-020-02475-x. PMID: 32333089
Kleyner R, Malcolmson J, Tegay D, Ward K, Maughan A, Maughan G, Nelson L, Wang K, Robison R, Lyon GJ
Cold Spring Harb Mol Case Stud 2016 Nov;2(6):a001131. doi: 10.1101/mcs.a001131. PMID: 27900361Free PMC Article
Basaran SY, Sensoy V, Kiroglu K, Messiaen L, Tuysuz B
Genet Couns 2010;21(3):307-16. PMID: 20964122
Lugo-Somolinos A, Sánchez JE
Bol Asoc Med P R 2003 Jul-Aug;95(4):12-6. PMID: 15032023
Schaumann BA, Kimura S
Birth Defects Orig Artic Ser 1991;27(2):229-52. PMID: 1786353

Clinical prediction guides

Minatogawa M, Unzaki A, Morisaki H, Syx D, Sonoda T, Janecke AR, Slavotinek A, Voermans NC, Lacassie Y, Mendoza-Londono R, Wierenga KJ, Jayakar P, Gahl WA, Tifft CJ, Figuera LE, Hilhorst-Hofstee Y, Maugeri A, Ishikawa K, Kobayashi T, Aoki Y, Ohura T, Kawame H, Kono M, Mochida K, Tokorodani C, Kikkawa K, Morisaki T, Kobayashi T, Nakane T, Kubo A, Ranells JD, Migita O, Sobey G, Kaur A, Ishikawa M, Yamaguchi T, Matsumoto N, Malfait F, Miyake N, Kosho T
J Med Genet 2022 Sep;59(9):865-877. Epub 2021 Nov 23 doi: 10.1136/jmedgenet-2020-107623. PMID: 34815299Free PMC Article
Kunc V, Štulpa M, Feigl G, Neblett C, Kunc V, Kachlík D
Surg Radiol Anat 2020 Aug;42(8):939-943. Epub 2020 Apr 24 doi: 10.1007/s00276-020-02475-x. PMID: 32333089
Sun Y, Hu G, Liu H, Zhang X, Huang Z, Yan H, Wang L, Fan Y, Gu X, Yu Y
Am J Med Genet A 2017 Feb;173(2):510-514. Epub 2016 Oct 19 doi: 10.1002/ajmg.a.38025. PMID: 27759909
Wijerathne BT, Meier RJ, Agampodi SB
J Med Case Rep 2016 Sep 20;10(1):258. doi: 10.1186/s13256-016-1048-7. PMID: 27650795Free PMC Article
Schaumann BA, Kimura S
Birth Defects Orig Artic Ser 1991;27(2):229-52. PMID: 1786353

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